Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.50188541G>ACA8644546COL1A1c.3196C>T (p.Arg1066Cys)
n.14C>T
n.140C>T
c.2926C>T (p.Arg976Cys)
c.2278C>T (p.Arg760Cys)
c.2998C>T (p.Arg1000Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.50188541G>CCA291543058COL1A1c.3196C>G (p.Arg1066Gly)
n.14C>G
n.140C>G
c.2926C>G (p.Arg976Gly)
c.2278C>G (p.Arg760Gly)
c.2998C>G (p.Arg1000Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.50188541G=CA2263915192COL1A1c.3196C= (p.Arg1066=)
n.14C=
n.140C=
c.2926C= (p.Arg976=)
c.2278C= (p.Arg760=)
c.2998C= (p.Arg1000=)
17g.50188541G>TCA400200592COL1A1c.3196C>A (p.Arg1066Ser)
n.14C>A
n.140C>A
c.2926C>A (p.Arg976Ser)
c.2278C>A (p.Arg760Ser)
c.2998C>A (p.Arg1000Ser)
 gnomAD v4
17g.50188542A=CA2263915193COL1A1c.3195T= (p.Asp1065=)
n.13T=
n.139T=
c.2925T= (p.Asp975=)
c.2277T= (p.Asp759=)
c.2997T= (p.Asp999=)
17g.50188542A>CCA400200598COL1A1c.3195T>G (p.Asp1065Glu)
n.13T>G
n.139T>G
c.2925T>G (p.Asp975Glu)
c.2277T>G (p.Asp759Glu)
c.2997T>G (p.Asp999Glu)
17g.50188542A>GCA500844383COL1A1c.3195T>C (p.Asp1065=)
n.13T>C
n.139T>C
c.2925T>C (p.Asp975=)
c.2277T>C (p.Asp759=)
c.2997T>C (p.Asp999=)
 dbSNP
17g.50188542A>TCA400200600COL1A1c.3195T>A (p.Asp1065Glu)
n.13T>A
n.139T>A
c.2925T>A (p.Asp975Glu)
c.2277T>A (p.Asp759Glu)
c.2997T>A (p.Asp999Glu)
 gnomAD v4
17g.50188543T>ACA400200617COL1A1c.3194A>T (p.Asp1065Val)
n.12A>T
n.138A>T
c.2924A>T (p.Asp975Val)
c.2276A>T (p.Asp759Val)
c.2996A>T (p.Asp999Val)
17g.50188543T>CCA400200615COL1A1c.3194A>G (p.Asp1065Gly)
n.12A>G
n.138A>G
c.2924A>G (p.Asp975Gly)
c.2276A>G (p.Asp759Gly)
c.2996A>G (p.Asp999Gly)
17g.50188543T>GCA400200609COL1A1c.3194A>C (p.Asp1065Ala)
n.12A>C
n.138A>C
c.2924A>C (p.Asp975Ala)
c.2276A>C (p.Asp759Ala)
c.2996A>C (p.Asp999Ala)
17g.50188544C>ACA400200621COL1A1c.3193G>T (p.Asp1065Tyr)
n.11G>T
n.137G>T
c.2923G>T (p.Asp975Tyr)
c.2275G>T (p.Asp759Tyr)
c.2995G>T (p.Asp999Tyr)
17g.50188544C>GCA400200625COL1A1c.3193G>C (p.Asp1065His)
n.11G>C
n.137G>C
c.2923G>C (p.Asp975His)
c.2275G>C (p.Asp759His)
c.2995G>C (p.Asp999His)
17g.50188544C>TCA400200631COL1A1c.3193G>A (p.Asp1065Asn)
n.11G>A
n.137G>A
c.2923G>A (p.Asp975Asn)
c.2275G>A (p.Asp759Asn)
c.2995G>A (p.Asp999Asn)
17g.50188545A=CA2263915194COL1A1c.3192T= (p.Gly1064=)
n.10T=
n.136T=
c.2922T= (p.Gly974=)
c.2274T= (p.Gly758=)
c.2994T= (p.Gly998=)
17g.50188545A>CCA500844384COL1A1c.3192T>G (p.Gly1064=)
n.10T>G
n.136T>G
c.2922T>G (p.Gly974=)
c.2274T>G (p.Gly758=)
c.2994T>G (p.Gly998=)
 dbSNP
17g.50188545A>GCA500844385COL1A1c.3192T>C (p.Gly1064=)
n.10T>C
n.136T>C
c.2922T>C (p.Gly974=)
c.2274T>C (p.Gly758=)
c.2994T>C (p.Gly998=)
 gnomAD v4
17g.50188545A>TCA500844386COL1A1c.3192T>A (p.Gly1064=)
n.10T>A
n.136T>A
c.2922T>A (p.Gly974=)
c.2274T>A (p.Gly758=)
c.2994T>A (p.Gly998=)
17g.50188546C>ACA400200637COL1A1c.3191G>T (p.Gly1064Val)
n.9G>T
n.135G>T
c.2921G>T (p.Gly974Val)
c.2273G>T (p.Gly758Val)
c.2993G>T (p.Gly998Val)
17g.50188546C=CA2263915195COL1A1c.3191G= (p.Gly1064=)
n.9G=
n.135G=
c.2921G= (p.Gly974=)
c.2273G= (p.Gly758=)
c.2993G= (p.Gly998=)
17g.50188546C>GCA291543059COL1A1c.3191G>C (p.Gly1064Ala)
n.9G>C
n.135G>C
c.2921G>C (p.Gly974Ala)
c.2273G>C (p.Gly758Ala)
c.2993G>C (p.Gly998Ala)
 dbSNP
17g.50188546C>TCA400200642COL1A1c.3191G>A (p.Gly1064Asp)
n.9G>A
n.135G>A
c.2921G>A (p.Gly974Asp)
c.2273G>A (p.Gly758Asp)
c.2993G>A (p.Gly998Asp)
17g.50188547delCA2580094224COL1A1c.3191del (p.Gly1064ValfsTer?)
n.9del
n.135del
c.2921del (p.Gly974ValfsTer?)
c.2273del (p.Gly758ValfsTer?)
c.2993del (p.Gly998ValfsTer?)
 ClinVar
17g.50188547C>ACA400200645COL1A1c.3190G>T (p.Gly1064Cys)
n.8G>T
n.134G>T
c.2920G>T (p.Gly974Cys)
c.2272G>T (p.Gly758Cys)
c.2992G>T (p.Gly998Cys)
17g.50188547C=CA2263915196COL1A1c.3190G= (p.Gly1064=)
n.8G=
n.134G=
c.2920G= (p.Gly974=)
c.2272G= (p.Gly758=)
c.2992G= (p.Gly998=)
17g.50188547C>GCA400200650COL1A1c.3190G>C (p.Gly1064Arg)
n.8G>C
n.134G>C
c.2920G>C (p.Gly974Arg)
c.2272G>C (p.Gly758Arg)
c.2992G>C (p.Gly998Arg)
17g.50188547C>TCA400200654COL1A1c.3190G>A (p.Gly1064Ser)
n.8G>A
n.134G>A
c.2920G>A (p.Gly974Ser)
c.2272G>A (p.Gly758Ser)
c.2992G>A (p.Gly998Ser)
 dbSNP gnomAD v2
17g.50188548delCA2580094225COL1A1c.3189del (p.Ser1063ArgfsTer?)
n.7del
n.133del
c.2919del (p.Ser973ArgfsTer?)
c.2271del (p.Ser757ArgfsTer?)
c.2991del (p.Ser997ArgfsTer?)
 ClinVar
17g.50188548A>CCA400200660COL1A1c.3189T>G (p.Ser1063Arg)
n.7T>G
n.133T>G
c.2919T>G (p.Ser973Arg)
c.2271T>G (p.Ser757Arg)
c.2991T>G (p.Ser997Arg)
17g.50188548A>GCA500844387COL1A1c.3189T>C (p.Ser1063=)
n.7T>C
n.133T>C
c.2919T>C (p.Ser973=)
c.2271T>C (p.Ser757=)
c.2991T>C (p.Ser997=)
17g.50188548A>TCA400200671COL1A1c.3189T>A (p.Ser1063Arg)
n.7T>A
n.133T>A
c.2919T>A (p.Ser973Arg)
c.2271T>A (p.Ser757Arg)
c.2991T>A (p.Ser997Arg)
17g.50188549C>ACA400200675COL1A1c.3188G>T (p.Ser1063Ile)
n.6G>T
n.132G>T
c.2918G>T (p.Ser973Ile)
c.2270G>T (p.Ser757Ile)
c.2990G>T (p.Ser997Ile)
17g.50188549C>GCA400200673COL1A1c.3188G>C (p.Ser1063Thr)
n.6G>C
n.132G>C
c.2918G>C (p.Ser973Thr)
c.2270G>C (p.Ser757Thr)
c.2990G>C (p.Ser997Thr)
 gnomAD v4
17g.50188549C>TCA400200672COL1A1c.3188G>A (p.Ser1063Asn)
n.6G>A
n.132G>A
c.2918G>A (p.Ser973Asn)
c.2270G>A (p.Ser757Asn)
c.2990G>A (p.Ser997Asn)
17g.50188550T>ACA400200679COL1A1c.3187A>T (p.Ser1063Cys)
n.5A>T
n.131A>T
c.2917A>T (p.Ser973Cys)
c.2269A>T (p.Ser757Cys)
c.2989A>T (p.Ser997Cys)
17g.50188550T>CCA400200682COL1A1c.3187A>G (p.Ser1063Gly)
n.5A>G
n.131A>G
c.2917A>G (p.Ser973Gly)
c.2269A>G (p.Ser757Gly)
c.2989A>G (p.Ser997Gly)
17g.50188550T>GCA400200685COL1A1c.3187A>C (p.Ser1063Arg)
n.5A>C
n.131A>C
c.2917A>C (p.Ser973Arg)
c.2269A>C (p.Ser757Arg)
c.2989A>C (p.Ser997Arg)
17g.50188551C>ACA400200688COL1A1c.3186G>T (p.Lys1062Asn)
n.4G>T
n.130G>T
c.2916G>T (p.Lys972Asn)
c.2268G>T (p.Lys756Asn)
c.2988G>T (p.Lys996Asn)
17g.50188551C>GCA400200692COL1A1c.3186G>C (p.Lys1062Asn)
n.4G>C
n.130G>C
c.2916G>C (p.Lys972Asn)
c.2268G>C (p.Lys756Asn)
c.2988G>C (p.Lys996Asn)
17g.50188551C>TCA500844388COL1A1c.3186G>A (p.Lys1062=)
n.4G>A
n.130G>A
c.2916G>A (p.Lys972=)
c.2268G>A (p.Lys756=)
c.2988G>A (p.Lys996=)
17g.50188552T>ACA400200700COL1A1c.3185A>T (p.Lys1062Met)
n.3A>T
n.129A>T
c.2915A>T (p.Lys972Met)
c.2267A>T (p.Lys756Met)
c.2987A>T (p.Lys996Met)
17g.50188552T>CCA400200701COL1A1c.3185A>G (p.Lys1062Arg)
n.3A>G
n.129A>G
c.2915A>G (p.Lys972Arg)
c.2267A>G (p.Lys756Arg)
c.2987A>G (p.Lys996Arg)
17g.50188552T>GCA400200702COL1A1c.3185A>C (p.Lys1062Thr)
n.3A>C
n.129A>C
c.2915A>C (p.Lys972Thr)
c.2267A>C (p.Lys756Thr)
c.2987A>C (p.Lys996Thr)
17g.50188553T>ACA400200703COL1A1c.3184A>T (p.Lys1062Ter)
n.2A>T
n.128A>T
c.2914A>T (p.Lys972Ter)
c.2266A>T (p.Lys756Ter)
c.2986A>T (p.Lys996Ter)
17g.50188553T>CCA400200705COL1A1c.3184A>G (p.Lys1062Glu)
n.2A>G
n.128A>G
c.2914A>G (p.Lys972Glu)
c.2266A>G (p.Lys756Glu)
c.2986A>G (p.Lys996Glu)
17g.50188553T>GCA400200707COL1A1c.3184A>C (p.Lys1062Gln)
n.2A>C
n.128A>C
c.2914A>C (p.Lys972Gln)
c.2266A>C (p.Lys756Gln)
c.2986A>C (p.Lys996Gln)
17g.50188554G>ACA500844389COL1A1c.3183C>T (p.Gly1061=)
n.1C>T
n.127C>T
c.2913C>T (p.Gly971=)
c.2265C>T (p.Gly755=)
c.2985C>T (p.Gly995=)
 ClinVar dbSNP
17g.50188554G>CCA500844390COL1A1c.3183C>G (p.Gly1061=)
n.1C>G
n.127C>G
c.2913C>G (p.Gly971=)
c.2265C>G (p.Gly755=)
c.2985C>G (p.Gly995=)
17g.50188554G=CA2263915197COL1A1c.3183C= (p.Gly1061=)
n.1C=
n.127C=
c.2913C= (p.Gly971=)
c.2265C= (p.Gly755=)
c.2985C= (p.Gly995=)
17g.50188554G>TCA500844391COL1A1c.3183C>A (p.Gly1061=)
n.1C>A
n.127C>A
c.2913C>A (p.Gly971=)
c.2265C>A (p.Gly755=)
c.2985C>A (p.Gly995=)
17g.50188555C>ACA400200721COL1A1c.3182G>T (p.Gly1061Val)
n.126G>T
c.2912G>T (p.Gly971Val)
c.2264G>T (p.Gly755Val)
c.2984G>T (p.Gly995Val)
 ClinVar
17g.50188555C=CA2263915198COL1A1c.3182G= (p.Gly1061=)
n.126G=
c.2912G= (p.Gly971=)
c.2264G= (p.Gly755=)
c.2984G= (p.Gly995=)
17g.50188555C>GCA400200719COL1A1c.3182G>C (p.Gly1061Ala)
n.126G>C
c.2912G>C (p.Gly971Ala)
c.2264G>C (p.Gly755Ala)
c.2984G>C (p.Gly995Ala)
 ClinVar dbSNP
17g.50188555C>TCA257848COL1A1c.3182G>A (p.Gly1061Asp)
n.126G>A
c.2912G>A (p.Gly971Asp)
c.2264G>A (p.Gly755Asp)
c.2984G>A (p.Gly995Asp)
 ClinVar dbSNP
17g.50188556C>ACA400200727COL1A1c.3181G>T (p.Gly1061Cys)
n.125G>T
c.2911G>T (p.Gly971Cys)
c.2263G>T (p.Gly755Cys)
c.2983G>T (p.Gly995Cys)
17g.50188556C=CA2263915199COL1A1c.3181G= (p.Gly1061=)
n.125G=
c.2911G= (p.Gly971=)
c.2263G= (p.Gly755=)
c.2983G= (p.Gly995=)
17g.50188556C>GCA400200730COL1A1c.3181G>C (p.Gly1061Arg)
n.125G>C
c.2911G>C (p.Gly971Arg)
c.2263G>C (p.Gly755Arg)
c.2983G>C (p.Gly995Arg)
17g.50188556C>TCA291543060COL1A1c.3181G>A (p.Gly1061Ser)
n.125G>A
c.2911G>A (p.Gly971Ser)
c.2263G>A (p.Gly755Ser)
c.2983G>A (p.Gly995Ser)
 dbSNP
17g.50188557A=CA2263915200COL1A1c.3180T= (p.Ala1060=)
n.124T=
c.2910T= (p.Ala970=)
c.2262T= (p.Ala754=)
c.2982T= (p.Ala994=)
17g.50188557A>CCA500844394COL1A1c.3180T>G (p.Ala1060=)
n.124T>G
c.2910T>G (p.Ala970=)
c.2262T>G (p.Ala754=)
c.2982T>G (p.Ala994=)
17g.50188557A>GCA8644547COL1A1c.3180T>C (p.Ala1060=)
n.124T>C
c.2910T>C (p.Ala970=)
c.2262T>C (p.Ala754=)
c.2982T>C (p.Ala994=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50188557A>TCA500844392COL1A1c.3180T>A (p.Ala1060=)
n.124T>A
c.2910T>A (p.Ala970=)
c.2262T>A (p.Ala754=)
c.2982T>A (p.Ala994=)
17g.50188558G>ACA400200740COL1A1c.3179C>T (p.Ala1060Val)
n.123C>T
c.2909C>T (p.Ala970Val)
c.2261C>T (p.Ala754Val)
c.2981C>T (p.Ala994Val)
 dbSNP gnomAD v2
17g.50188558G>CCA400200742COL1A1c.3179C>G (p.Ala1060Gly)
n.123C>G
c.2909C>G (p.Ala970Gly)
c.2261C>G (p.Ala754Gly)
c.2981C>G (p.Ala994Gly)
17g.50188558G=CA2263915201COL1A1c.3179C= (p.Ala1060=)
n.123C=
c.2909C= (p.Ala970=)
c.2261C= (p.Ala754=)
c.2981C= (p.Ala994=)
17g.50188558G>TCA400200745COL1A1c.3179C>A (p.Ala1060Asp)
n.123C>A
c.2909C>A (p.Ala970Asp)
c.2261C>A (p.Ala754Asp)
c.2981C>A (p.Ala994Asp)
17g.50188559delCA2695226470COL1A1c.3178del (p.Ala1060LeufsTer?)
n.122del
c.2908del (p.Ala970LeufsTer?)
c.2260del (p.Ala754LeufsTer?)
c.2980del (p.Ala994LeufsTer?)
17g.50188559C>ACA400200751COL1A1c.3178G>T (p.Ala1060Ser)
n.122G>T
c.2908G>T (p.Ala970Ser)
c.2260G>T (p.Ala754Ser)
c.2980G>T (p.Ala994Ser)
17g.50188559C>GCA400200753COL1A1c.3178G>C (p.Ala1060Pro)
n.122G>C
c.2908G>C (p.Ala970Pro)
c.2260G>C (p.Ala754Pro)
c.2980G>C (p.Ala994Pro)
17g.50188559C>TCA400200757COL1A1c.3178G>A (p.Ala1060Thr)
n.122G>A
c.2908G>A (p.Ala970Thr)
c.2260G>A (p.Ala754Thr)
c.2980G>A (p.Ala994Thr)
17g.50188560A>CCA500844395COL1A1c.3177T>G (p.Pro1059=)
n.121T>G
c.2907T>G (p.Pro969=)
c.2259T>G (p.Pro753=)
c.2979T>G (p.Pro993=)
17g.50188560A>GCA500844396COL1A1c.3177T>C (p.Pro1059=)
n.121T>C
c.2907T>C (p.Pro969=)
c.2259T>C (p.Pro753=)
c.2979T>C (p.Pro993=)
17g.50188560A>TCA500844397COL1A1c.3177T>A (p.Pro1059=)
n.121T>A
c.2907T>A (p.Pro969=)
c.2259T>A (p.Pro753=)
c.2979T>A (p.Pro993=)
17g.50188561G>ACA291543061COL1A1c.3176C>T (p.Pro1059Leu)
n.120C>T
c.2906C>T (p.Pro969Leu)
c.2258C>T (p.Pro753Leu)
c.2978C>T (p.Pro993Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50188561G>CCA400200759COL1A1c.3176C>G (p.Pro1059Arg)
n.120C>G
c.2906C>G (p.Pro969Arg)
c.2258C>G (p.Pro753Arg)
c.2978C>G (p.Pro993Arg)
17g.50188561G=CA2263915202COL1A1c.3176C= (p.Pro1059=)
n.120C=
c.2906C= (p.Pro969=)
c.2258C= (p.Pro753=)
c.2978C= (p.Pro993=)
17g.50188561G>TCA400200761COL1A1c.3176C>A (p.Pro1059His)
n.120C>A
c.2906C>A (p.Pro969His)
c.2258C>A (p.Pro753His)
c.2978C>A (p.Pro993His)
 dbSNP gnomAD v2 gnomAD v4
17g.50188563dupCA2740097887COL1A1c.3176dup (p.Ala1060CysfsTer6)
n.120dup
c.2906dup (p.Ala970CysfsTer6)
c.2258dup (p.Ala754CysfsTer6)
c.2978dup (p.Ala994CysfsTer6)
 ClinVar
17g.50188563delCA2739268231COL1A1c.3176del (p.Pro1059LeufsTer?)
n.120del
c.2906del (p.Pro969LeufsTer?)
c.2258del (p.Pro753LeufsTer?)
c.2978del (p.Pro993LeufsTer?)
 ClinVar
17g.50188562G>ACA400200769COL1A1c.3175C>T (p.Pro1059Ser)
n.119C>T
c.2905C>T (p.Pro969Ser)
c.2257C>T (p.Pro753Ser)
c.2977C>T (p.Pro993Ser)
 gnomAD v4 COSMIC
17g.50188562G>CCA400200773COL1A1c.3175C>G (p.Pro1059Ala)
n.119C>G
c.2905C>G (p.Pro969Ala)
c.2257C>G (p.Pro753Ala)
c.2977C>G (p.Pro993Ala)
17g.50188562G>TCA400200766COL1A1c.3175C>A (p.Pro1059Thr)
n.119C>A
c.2905C>A (p.Pro969Thr)
c.2257C>A (p.Pro753Thr)
c.2977C>A (p.Pro993Thr)
17g.50188563G>ACA500844398COL1A1c.3174C>T (p.Gly1058=)
n.118C>T
c.2904C>T (p.Gly968=)
c.2256C>T (p.Gly752=)
c.2976C>T (p.Gly992=)
17g.50188563G>CCA500844399COL1A1c.3174C>G (p.Gly1058=)
n.118C>G
c.2904C>G (p.Gly968=)
c.2256C>G (p.Gly752=)
c.2976C>G (p.Gly992=)
17g.50188563G>TCA500844400COL1A1c.3174C>A (p.Gly1058=)
n.118C>A
c.2904C>A (p.Gly968=)
c.2256C>A (p.Gly752=)
c.2976C>A (p.Gly992=)
17g.50188564C>ACA400200789COL1A1c.3173G>T (p.Gly1058Val)
n.117G>T
c.2903G>T (p.Gly968Val)
c.2255G>T (p.Gly752Val)
c.2975G>T (p.Gly992Val)
17g.50188564C>GCA400200780COL1A1c.3173G>C (p.Gly1058Ala)
n.117G>C
c.2903G>C (p.Gly968Ala)
c.2255G>C (p.Gly752Ala)
c.2975G>C (p.Gly992Ala)
17g.50188564C>TCA400200784COL1A1c.3173G>A (p.Gly1058Asp)
n.117G>A
c.2903G>A (p.Gly968Asp)
c.2255G>A (p.Gly752Asp)
c.2975G>A (p.Gly992Asp)
17g.50188565C>ACA400200793COL1A1c.3172G>T (p.Gly1058Cys)
n.116G>T
c.2902G>T (p.Gly968Cys)
c.2254G>T (p.Gly752Cys)
c.2974G>T (p.Gly992Cys)
17g.50188565C=CA2263915203COL1A1c.3172G= (p.Gly1058=)
n.116G=
c.2902G= (p.Gly968=)
c.2254G= (p.Gly752=)
c.2974G= (p.Gly992=)
17g.50188565C>GCA400200796COL1A1c.3172G>C (p.Gly1058Arg)
n.116G>C
c.2902G>C (p.Gly968Arg)
c.2254G>C (p.Gly752Arg)
c.2974G>C (p.Gly992Arg)
17g.50188565C>TCA291543062COL1A1c.3172G>A (p.Gly1058Ser)
n.116G>A
c.2902G>A (p.Gly968Ser)
c.2254G>A (p.Gly752Ser)
c.2974G>A (p.Gly992Ser)
 dbSNP
17g.50188566A>CCA500844401COL1A1c.3171T>G (p.Val1057=)
n.115T>G
c.2901T>G (p.Val967=)
c.2253T>G (p.Val751=)
c.2973T>G (p.Val991=)
17g.50188566A>GCA500844402COL1A1c.3171T>C (p.Val1057=)
n.115T>C
c.2901T>C (p.Val967=)
c.2253T>C (p.Val751=)
c.2973T>C (p.Val991=)
17g.50188566A>TCA500844403COL1A1c.3171T>A (p.Val1057=)
n.115T>A
c.2901T>A (p.Val967=)
c.2253T>A (p.Val751=)
c.2973T>A (p.Val991=)
17g.50188566_50188580delinsAACGGGGCCAGGGGCCA2263915204COL1A1c.3157_3171delinsGCCCCTGGCCCCGTT (p.Ala1053=)
n.101_115delinsGCCCCTGGCCCCGTT
c.2887_2901delinsGCCCCTGGCCCCGTT (p.Ala963=)
c.2239_2253delinsGCCCCTGGCCCCGTT (p.Ala747=)
c.2959_2973delinsGCCCCTGGCCCCGTT (p.Ala987=)
17g.50188567A=CA2263915205COL1A1c.3170T= (p.Val1057=)
n.114T=
c.2900T= (p.Val967=)
c.2252T= (p.Val751=)
c.2972T= (p.Val991=)
17g.50188567A>CCA400200814COL1A1c.3170T>G (p.Val1057Gly)
n.114T>G
c.2900T>G (p.Val967Gly)
c.2252T>G (p.Val751Gly)
c.2972T>G (p.Val991Gly)
17g.50188567A>GCA400200809COL1A1c.3170T>C (p.Val1057Ala)
n.114T>C
c.2900T>C (p.Val967Ala)
c.2252T>C (p.Val751Ala)
c.2972T>C (p.Val991Ala)
17g.50188567A>TCA400200807COL1A1c.3170T>A (p.Val1057Asp)
n.114T>A
c.2900T>A (p.Val967Asp)
c.2252T>A (p.Val751Asp)
c.2972T>A (p.Val991Asp)
17g.50188569_50188582delCA16620474COL1A1c.3157_3170del (p.Ala1053TrpfsTer8)
n.101_114del
c.2887_2900del (p.Ala963TrpfsTer8)
c.2239_2252del (p.Ala747TrpfsTer8)
c.2959_2972del (p.Ala987TrpfsTer8)
 ClinVar dbSNP
17g.50188567_50188568insACGGGGCCAGGGGCCA919856572COL1A1c.3169_3170insGCCCCTGGCCCCGT (p.Val1057GlyfsTer?)
n.113_114insGCCCCTGGCCCCGT
c.2899_2900insGCCCCTGGCCCCGT (p.Val967GlyfsTer?)
c.2251_2252insGCCCCTGGCCCCGT (p.Val751GlyfsTer?)
c.2971_2972insGCCCCTGGCCCCGT (p.Val991GlyfsTer?)
 dbSNP
17g.50188568C>ACA400200817COL1A1c.3169G>T (p.Val1057Phe)
n.113G>T
c.2899G>T (p.Val967Phe)
c.2251G>T (p.Val751Phe)
c.2971G>T (p.Val991Phe)
 gnomAD v4
17g.50188568C=CA2263915206COL1A1c.3169G= (p.Val1057=)
n.113G=
c.2899G= (p.Val967=)
c.2251G= (p.Val751=)
c.2971G= (p.Val991=)
17g.50188568C>GCA400200844COL1A1c.3169G>C (p.Val1057Leu)
n.113G>C
c.2899G>C (p.Val967Leu)
c.2251G>C (p.Val751Leu)
c.2971G>C (p.Val991Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.50188568C>TCA8644548COL1A1c.3169G>A (p.Val1057Ile)
n.113G>A
c.2899G>A (p.Val967Ile)
c.2251G>A (p.Val751Ile)
c.2971G>A (p.Val991Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.50188568_50188569delinsCGCA2263915207COL1A1c.3168_3169delinsCG (p.Pro1056=)
n.112_113delinsCG
c.2898_2899delinsCG (p.Pro966=)
c.2250_2251delinsCG (p.Pro750=)
c.2970_2971delinsCG (p.Pro990=)
17g.50188569G>ACA291543063COL1A1c.3168C>T (p.Pro1056=)
n.112C>T
c.2898C>T (p.Pro966=)
c.2250C>T (p.Pro750=)
c.2970C>T (p.Pro990=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50188569G>CCA500844404COL1A1c.3168C>G (p.Pro1056=)
n.112C>G
c.2898C>G (p.Pro966=)
c.2250C>G (p.Pro750=)
c.2970C>G (p.Pro990=)
17g.50188569G=CA2263915208COL1A1c.3168C= (p.Pro1056=)
n.112C=
c.2898C= (p.Pro966=)
c.2250C= (p.Pro750=)
c.2970C= (p.Pro990=)
17g.50188569G>TCA500844405COL1A1c.3168C>A (p.Pro1056=)
n.112C>A
c.2898C>A (p.Pro966=)
c.2250C>A (p.Pro750=)
c.2970C>A (p.Pro990=)
17g.50188572dupCA2580094226COL1A1c.3168dup (p.Val1057ArgfsTer9)
n.112dup
c.2898dup (p.Val967ArgfsTer9)
c.2250dup (p.Val751ArgfsTer9)
c.2970dup (p.Val991ArgfsTer9)
 ClinVar
17g.50188572delCA658798889COL1A1c.3168del (p.Val1057LeufsTer?)
n.112del
c.2898del (p.Val967LeufsTer?)
c.2250del (p.Val751LeufsTer?)
c.2970del (p.Val991LeufsTer?)
 ClinVar dbSNP
17g.50188570G>ACA400200856COL1A1c.3167C>T (p.Pro1056Leu)
n.111C>T
c.2897C>T (p.Pro966Leu)
c.2249C>T (p.Pro750Leu)
c.2969C>T (p.Pro990Leu)
 COSMIC
17g.50188570G>CCA400200891COL1A1c.3167C>G (p.Pro1056Arg)
n.111C>G
c.2897C>G (p.Pro966Arg)
c.2249C>G (p.Pro750Arg)
c.2969C>G (p.Pro990Arg)
17g.50188570G>TCA400200896COL1A1c.3167C>A (p.Pro1056His)
n.111C>A
c.2897C>A (p.Pro966His)
c.2249C>A (p.Pro750His)
c.2969C>A (p.Pro990His)
17g.50188571G>ACA400200903COL1A1c.3166C>T (p.Pro1056Ser)
n.110C>T
c.2896C>T (p.Pro966Ser)
c.2248C>T (p.Pro750Ser)
c.2968C>T (p.Pro990Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.50188571G>CCA400200908COL1A1c.3166C>G (p.Pro1056Ala)
n.110C>G
c.2896C>G (p.Pro966Ala)
c.2248C>G (p.Pro750Ala)
c.2968C>G (p.Pro990Ala)
17g.50188571G=CA2263915209COL1A1c.3166C= (p.Pro1056=)
n.110C=
c.2896C= (p.Pro966=)
c.2248C= (p.Pro750=)
c.2968C= (p.Pro990=)
17g.50188571G>TCA400200907COL1A1c.3166C>A (p.Pro1056Thr)
n.110C>A
c.2896C>A (p.Pro966Thr)
c.2248C>A (p.Pro750Thr)
c.2968C>A (p.Pro990Thr)
17g.50188572G>ACA500844406COL1A1c.3165C>T (p.Gly1055=)
n.109C>T
c.2895C>T (p.Gly965=)
c.2247C>T (p.Gly749=)
c.2967C>T (p.Gly989=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50188572G>CCA291543064COL1A1c.3165C>G (p.Gly1055=)
n.109C>G
c.2895C>G (p.Gly965=)
c.2247C>G (p.Gly749=)
c.2967C>G (p.Gly989=)
 dbSNP
17g.50188572G=CA2263915211COL1A1c.3165C= (p.Gly1055=)
n.109C=
c.2895C= (p.Gly965=)
c.2247C= (p.Gly749=)
c.2967C= (p.Gly989=)
17g.50188572G>TCA500844407COL1A1c.3165C>A (p.Gly1055=)
n.109C>A
c.2895C>A (p.Gly965=)
c.2247C>A (p.Gly749=)
c.2967C>A (p.Gly989=)
 gnomAD v4
17g.50188572_50188581delinsGCCAGGGGCACA2263915210COL1A1c.3156_3165delinsTGCCCCTGGC (p.Gly1052=)
n.100_109delinsTGCCCCTGGC
c.2886_2895delinsTGCCCCTGGC (p.Gly962=)
c.2238_2247delinsTGCCCCTGGC (p.Gly746=)
c.2958_2967delinsTGCCCCTGGC (p.Gly986=)
17g.50188573C>ACA400200920COL1A1c.3164G>T (p.Gly1055Val)
n.108G>T
c.2894G>T (p.Gly965Val)
c.2246G>T (p.Gly749Val)
c.2966G>T (p.Gly989Val)
17g.50188573C=CA2263915212COL1A1c.3164G= (p.Gly1055=)
n.108G=
c.2894G= (p.Gly965=)
c.2246G= (p.Gly749=)
c.2966G= (p.Gly989=)
17g.50188573C>GCA400200922COL1A1c.3164G>C (p.Gly1055Ala)
n.108G>C
c.2894G>C (p.Gly965Ala)
c.2246G>C (p.Gly749Ala)
c.2966G>C (p.Gly989Ala)
17g.50188573C>TCA400200926COL1A1c.3164G>A (p.Gly1055Asp)
n.108G>A
c.2894G>A (p.Gly965Asp)
c.2246G>A (p.Gly749Asp)
c.2966G>A (p.Gly989Asp)
 ClinVar dbSNP
17g.50188574dupCA2739291006COL1A1c.3164dup (p.Val1057ArgfsTer9)
n.108dup
c.2894dup (p.Val967ArgfsTer9)
c.2246dup (p.Val751ArgfsTer9)
c.2966dup (p.Val991ArgfsTer9)
17g.50188578_50188586delCA291543065COL1A1c.3156_3164del (p.Ala1053_Gly1055del)
n.100_108del
c.2886_2894del (p.Ala963_Gly965del)
c.2238_2246del (p.Ala747_Gly749del)
c.2958_2966del (p.Ala987_Gly989del)
 dbSNP
17g.50188574C>ACA400200931COL1A1c.3163G>T (p.Gly1055Cys)
n.107G>T
c.2893G>T (p.Gly965Cys)
c.2245G>T (p.Gly749Cys)
c.2965G>T (p.Gly989Cys)
17g.50188574C>GCA400200935COL1A1c.3163G>C (p.Gly1055Arg)
n.107G>C
c.2893G>C (p.Gly965Arg)
c.2245G>C (p.Gly749Arg)
c.2965G>C (p.Gly989Arg)
17g.50188574C>TCA400200943COL1A1c.3163G>A (p.Gly1055Ser)
n.107G>A
c.2893G>A (p.Gly965Ser)
c.2245G>A (p.Gly749Ser)
c.2965G>A (p.Gly989Ser)
17g.50188574_50188575delinsCACA2263915213COL1A1c.3162_3163delinsTG (p.Pro1054=)
n.106_107delinsTG
c.2892_2893delinsTG (p.Pro964=)
c.2244_2245delinsTG (p.Pro748=)
c.2964_2965delinsTG (p.Pro988=)
17g.50188575delCA10605099COL1A1c.3162del (p.Gly1055AlafsTer?)
n.106del
c.2892del (p.Gly965AlafsTer?)
c.2244del (p.Gly749AlafsTer?)
c.2964del (p.Gly989AlafsTer?)
 ClinVar dbSNP
17g.50188575A>CCA500844408COL1A1c.3162T>G (p.Pro1054=)
n.106T>G
c.2892T>G (p.Pro964=)
c.2244T>G (p.Pro748=)
c.2964T>G (p.Pro988=)
17g.50188575A>GCA500844409COL1A1c.3162T>C (p.Pro1054=)
n.106T>C
c.2892T>C (p.Pro964=)
c.2244T>C (p.Pro748=)
c.2964T>C (p.Pro988=)
17g.50188575A>TCA500844410COL1A1c.3162T>A (p.Pro1054=)
n.106T>A
c.2892T>A (p.Pro964=)
c.2244T>A (p.Pro748=)
c.2964T>A (p.Pro988=)
17g.50188576G>ACA8644549COL1A1c.3161C>T (p.Pro1054Leu)
n.105C>T
c.2891C>T (p.Pro964Leu)
c.2243C>T (p.Pro748Leu)
c.2963C>T (p.Pro988Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.50188576G>CCA400200958COL1A1c.3161C>G (p.Pro1054Arg)
n.105C>G
c.2891C>G (p.Pro964Arg)
c.2243C>G (p.Pro748Arg)
c.2963C>G (p.Pro988Arg)
17g.50188576G=CA2263915214COL1A1c.3161C= (p.Pro1054=)
n.105C=
c.2891C= (p.Pro964=)
c.2243C= (p.Pro748=)
c.2963C= (p.Pro988=)
17g.50188576G>TCA400200962COL1A1c.3161C>A (p.Pro1054His)
n.105C>A
c.2891C>A (p.Pro964His)
c.2243C>A (p.Pro748His)
c.2963C>A (p.Pro988His)
 gnomAD v4
17g.50188576_50188613delinsGGGGCACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCCA2263915215COL1A1c.3124_3161delinsGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCC (p.Ala1042=)
n.68_105delinsGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCC
c.2854_2891delinsGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCC (p.Ala952=)
c.2206_2243delinsGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCC (p.Ala736=)
c.2926_2963delinsGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCC (p.Ala976=)
17g.50188577G>ACA400200977COL1A1c.3160C>T (p.Pro1054Ser)
n.104C>T
c.2890C>T (p.Pro964Ser)
c.2242C>T (p.Pro748Ser)
c.2962C>T (p.Pro988Ser)
17g.50188577G>CCA400200973COL1A1c.3160C>G (p.Pro1054Ala)
n.104C>G
c.2890C>G (p.Pro964Ala)
c.2242C>G (p.Pro748Ala)
c.2962C>G (p.Pro988Ala)
17g.50188577G>TCA400200970COL1A1c.3160C>A (p.Pro1054Thr)
n.104C>A
c.2890C>A (p.Pro964Thr)
c.2242C>A (p.Pro748Thr)
c.2962C>A (p.Pro988Thr)
17g.50188580_50188616delCA913190878COL1A1c.3124_3160del (p.Ala1042LeufsTer?)
n.68_104del
c.2854_2890del (p.Ala952LeufsTer?)
c.2206_2242del (p.Ala736LeufsTer?)
c.2926_2962del (p.Ala976LeufsTer?)
 ClinVar dbSNP
17g.50188578G>ACA500844411COL1A1c.3159C>T (p.Ala1053=)
n.103C>T
c.2889C>T (p.Ala963=)
c.2241C>T (p.Ala747=)
c.2961C>T (p.Ala987=)
 gnomAD v4
17g.50188578G>CCA500844412COL1A1c.3159C>G (p.Ala1053=)
n.103C>G
c.2889C>G (p.Ala963=)
c.2241C>G (p.Ala747=)
c.2961C>G (p.Ala987=)
17g.50188578G=CA2263915217COL1A1c.3159C= (p.Ala1053=)
n.103C=
c.2889C= (p.Ala963=)
c.2241C= (p.Ala747=)
c.2961C= (p.Ala987=)
17g.50188578G>TCA500844413COL1A1c.3159C>A (p.Ala1053=)
n.103C>A
c.2889C>A (p.Ala963=)
c.2241C>A (p.Ala747=)
c.2961C>A (p.Ala987=)
17g.50188578_50188587delinsGGCACCAGGACA2263915216COL1A1c.3150_3159delinsTCCTGGTGCC (p.Ala1050=)
n.94_103delinsTCCTGGTGCC
c.2880_2889delinsTCCTGGTGCC (p.Ala960=)
c.2232_2241delinsTCCTGGTGCC (p.Ala744=)
c.2952_2961delinsTCCTGGTGCC (p.Ala984=)
17g.50188579G>ACA400200984COL1A1c.3158C>T (p.Ala1053Val)
n.102C>T
c.2888C>T (p.Ala963Val)
c.2240C>T (p.Ala747Val)
c.2960C>T (p.Ala987Val)
17g.50188579G>CCA400200988COL1A1c.3158C>G (p.Ala1053Gly)
n.102C>G
c.2888C>G (p.Ala963Gly)
c.2240C>G (p.Ala747Gly)
c.2960C>G (p.Ala987Gly)
17g.50188579G>TCA400201004COL1A1c.3158C>A (p.Ala1053Asp)
n.102C>A
c.2888C>A (p.Ala963Asp)
c.2240C>A (p.Ala747Asp)
c.2960C>A (p.Ala987Asp)
17g.50188579_50188580insGACCAGGAGCA2695226471COL1A1c.3158_3159insTCCTGGTCC (p.Ala1053_Pro1054insProGlyPro)
n.102_103insTCCTGGTCC
c.2888_2889insTCCTGGTCC (p.Ala963_Pro964insProGlyPro)
c.2240_2241insTCCTGGTCC (p.Ala747_Pro748insProGlyPro)
c.2960_2961insTCCTGGTCC (p.Ala987_Pro988insProGlyPro)
17g.50188580_50188585dupCA291543066COL1A1c.3153_3158dup (p.Ala1053_Pro1054insGlyAla)
n.97_102dup
c.2883_2888dup (p.Ala963_Pro964insGlyAla)
c.2235_2240dup (p.Ala747_Pro748insGlyAla)
c.2955_2960dup (p.Ala987_Pro988insGlyAla)
 dbSNP
17g.50188596_50188604dupCA16042995COL1A1c.3150_3158dup (p.Ala1053_Pro1054insProGlyAla)
n.94_102dup
c.2880_2888dup (p.Ala963_Pro964insProGlyAla)
c.2232_2240dup (p.Ala747_Pro748insProGlyAla)
c.2952_2960dup (p.Ala987_Pro988insProGlyAla)
 ClinVar dbSNP
17g.50188596_50188604delCA16043049COL1A1c.3150_3158del (p.Pro1051_Ala1053del)
n.94_102del
c.2880_2888del (p.Pro961_Ala963del)
c.2232_2240del (p.Pro745_Ala747del)
c.2952_2960del (p.Pro985_Ala987del)
 ClinVar dbSNP
17g.50188580C>ACA400201048COL1A1c.3157G>T (p.Ala1053Ser)
n.101G>T
c.2887G>T (p.Ala963Ser)
c.2239G>T (p.Ala747Ser)
c.2959G>T (p.Ala987Ser)
17g.50188580C=CA2263915218COL1A1c.3157G= (p.Ala1053=)
n.101G=
c.2887G= (p.Ala963=)
c.2239G= (p.Ala747=)
c.2959G= (p.Ala987=)
17g.50188580C>GCA400201030COL1A1c.3157G>C (p.Ala1053Pro)
n.101G>C
c.2887G>C (p.Ala963Pro)
c.2239G>C (p.Ala747Pro)
c.2959G>C (p.Ala987Pro)
 dbSNP
17g.50188580C>TCA400201019COL1A1c.3157G>A (p.Ala1053Thr)
n.101G>A
c.2887G>A (p.Ala963Thr)
c.2239G>A (p.Ala747Thr)
c.2959G>A (p.Ala987Thr)
17g.50188581delCA2580094228COL1A1c.3156del (p.Ala1053ProfsTer?)
n.100del
c.2886del (p.Ala963ProfsTer?)
c.2238del (p.Ala747ProfsTer?)
c.2958del (p.Ala987ProfsTer?)
 ClinVar
17g.50188581A=CA2263915219COL1A1c.3156T= (p.Gly1052=)
n.100T=
c.2886T= (p.Gly962=)
c.2238T= (p.Gly746=)
c.2958T= (p.Gly986=)
17g.50188581A>CCA500844414COL1A1c.3156T>G (p.Gly1052=)
n.100T>G
c.2886T>G (p.Gly962=)
c.2238T>G (p.Gly746=)
c.2958T>G (p.Gly986=)
17g.50188581A>GCA500844415COL1A1c.3156T>C (p.Gly1052=)
n.100T>C
c.2886T>C (p.Gly962=)
c.2238T>C (p.Gly746=)
c.2958T>C (p.Gly986=)
 dbSNP
17g.50188581A>TCA500844416COL1A1c.3156T>A (p.Gly1052=)
n.100T>A
c.2886T>A (p.Gly962=)
c.2238T>A (p.Gly746=)
c.2958T>A (p.Gly986=)
17g.50188582C>ACA400201054COL1A1c.3155G>T (p.Gly1052Val)
n.99G>T
c.2885G>T (p.Gly962Val)
c.2237G>T (p.Gly746Val)
c.2957G>T (p.Gly986Val)
17g.50188582C>GCA400201057COL1A1c.3155G>C (p.Gly1052Ala)
n.99G>C
c.2885G>C (p.Gly962Ala)
c.2237G>C (p.Gly746Ala)
c.2957G>C (p.Gly986Ala)
 ClinVar
17g.50188582C>TCA400201058COL1A1c.3155G>A (p.Gly1052Asp)
n.99G>A
c.2885G>A (p.Gly962Asp)
c.2237G>A (p.Gly746Asp)
c.2957G>A (p.Gly986Asp)
17g.50188583C>ACA400201059COL1A1c.3154G>T (p.Gly1052Cys)
n.98G>T
c.2884G>T (p.Gly962Cys)
c.2236G>T (p.Gly746Cys)
c.2956G>T (p.Gly986Cys)
17g.50188583C=CA2263915220COL1A1c.3154G= (p.Gly1052=)
n.98G=
c.2884G= (p.Gly962=)
c.2236G= (p.Gly746=)
c.2956G= (p.Gly986=)
17g.50188583C>GCA400201063COL1A1c.3154G>C (p.Gly1052Arg)
n.98G>C
c.2884G>C (p.Gly962Arg)
c.2236G>C (p.Gly746Arg)
c.2956G>C (p.Gly986Arg)
17g.50188583C>TCA291543067COL1A1c.3154G>A (p.Gly1052Ser)
n.98G>A
c.2884G>A (p.Gly962Ser)
c.2236G>A (p.Gly746Ser)
c.2956G>A (p.Gly986Ser)
 dbSNP gnomAD v4
17g.50188584_50188591dupCA919856573COL1A1c.3147_3154dup (p.Gly1052ValfsTer?)
n.91_98dup
c.2877_2884dup (p.Gly962ValfsTer?)
c.2229_2236dup (p.Gly746ValfsTer?)
c.2949_2956dup (p.Gly986ValfsTer?)
 dbSNP
17g.50188584A>CCA500844417COL1A1c.3153T>G (p.Pro1051=)
n.97T>G
c.2883T>G (p.Pro961=)
c.2235T>G (p.Pro745=)
c.2955T>G (p.Pro985=)
17g.50188584A>GCA500844418COL1A1c.3153T>C (p.Pro1051=)
n.97T>C
c.2883T>C (p.Pro961=)
c.2235T>C (p.Pro745=)
c.2955T>C (p.Pro985=)
 ClinVar
17g.50188584A>TCA500844419COL1A1c.3153T>A (p.Pro1051=)
n.97T>A
c.2883T>A (p.Pro961=)
c.2235T>A (p.Pro745=)
c.2955T>A (p.Pro985=)
17g.50188585G>ACA400201073COL1A1c.3152C>T (p.Pro1051Leu)
n.96C>T
c.2882C>T (p.Pro961Leu)
c.2234C>T (p.Pro745Leu)
c.2954C>T (p.Pro985Leu)
 ClinVar dbSNP gnomAD v4
17g.50188585G>CCA400201081COL1A1c.3152C>G (p.Pro1051Arg)
n.96C>G
c.2882C>G (p.Pro961Arg)
c.2234C>G (p.Pro745Arg)
c.2954C>G (p.Pro985Arg)
17g.50188585G>TCA400201076COL1A1c.3152C>A (p.Pro1051His)
n.96C>A
c.2882C>A (p.Pro961His)
c.2234C>A (p.Pro745His)
c.2954C>A (p.Pro985His)
17g.50188586G>ACA400201087COL1A1c.3151C>T (p.Pro1051Ser)
n.95C>T
c.2881C>T (p.Pro961Ser)
c.2233C>T (p.Pro745Ser)
c.2953C>T (p.Pro985Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.50188586G>CCA400201089COL1A1c.3151C>G (p.Pro1051Ala)
n.95C>G
c.2881C>G (p.Pro961Ala)
c.2233C>G (p.Pro745Ala)
c.2953C>G (p.Pro985Ala)
17g.50188586G=CA2263915221COL1A1c.3151C= (p.Pro1051=)
n.95C=
c.2881C= (p.Pro961=)
c.2233C= (p.Pro745=)
c.2953C= (p.Pro985=)
17g.50188586G>TCA400201111COL1A1c.3151C>A (p.Pro1051Thr)
n.95C>A
c.2881C>A (p.Pro961Thr)
c.2233C>A (p.Pro745Thr)
c.2953C>A (p.Pro985Thr)
17g.50188587A=CA2263915222COL1A1c.3150T= (p.Ala1050=)
n.94T=
c.2880T= (p.Ala960=)
c.2232T= (p.Ala744=)
c.2952T= (p.Ala984=)
17g.50188587A>CCA500844421COL1A1c.3150T>G (p.Ala1050=)
n.94T>G
c.2880T>G (p.Ala960=)
c.2232T>G (p.Ala744=)
c.2952T>G (p.Ala984=)
 dbSNP
17g.50188587A>GCA500844422COL1A1c.3150T>C (p.Ala1050=)
n.94T>C
c.2880T>C (p.Ala960=)
c.2232T>C (p.Ala744=)
c.2952T>C (p.Ala984=)
17g.50188587A>TCA500844420COL1A1c.3150T>A (p.Ala1050=)
n.94T>A
c.2880T>A (p.Ala960=)
c.2232T>A (p.Ala744=)
c.2952T>A (p.Ala984=)
17g.50188588G>ACA400201115COL1A1c.3149C>T (p.Ala1050Val)
n.93C>T
c.2879C>T (p.Ala960Val)
c.2231C>T (p.Ala744Val)
c.2951C>T (p.Ala984Val)
 gnomAD v4
17g.50188588G>CCA400201117COL1A1c.3149C>G (p.Ala1050Gly)
n.93C>G
c.2879C>G (p.Ala960Gly)
c.2231C>G (p.Ala744Gly)
c.2951C>G (p.Ala984Gly)
17g.50188588G>TCA400201121COL1A1c.3149C>A (p.Ala1050Asp)
n.93C>A
c.2879C>A (p.Ala960Asp)
c.2231C>A (p.Ala744Asp)
c.2951C>A (p.Ala984Asp)
17g.50188589C>ACA400201134COL1A1c.3148G>T (p.Ala1050Ser)
n.92G>T
c.2878G>T (p.Ala960Ser)
c.2230G>T (p.Ala744Ser)
c.2950G>T (p.Ala984Ser)
17g.50188589C>GCA400201138COL1A1c.3148G>C (p.Ala1050Pro)
n.92G>C
c.2878G>C (p.Ala960Pro)
c.2230G>C (p.Ala744Pro)
c.2950G>C (p.Ala984Pro)
 gnomAD v4
17g.50188589C>TCA400201145COL1A1c.3148G>A (p.Ala1050Thr)
n.92G>A
c.2878G>A (p.Ala960Thr)
c.2230G>A (p.Ala744Thr)
c.2950G>A (p.Ala984Thr)
17g.50188590A=CA2263915223COL1A1c.3147T= (p.Gly1049=)
n.91T=
c.2877T= (p.Gly959=)
c.2229T= (p.Gly743=)
c.2949T= (p.Gly983=)
17g.50188590A>CCA500844423COL1A1c.3147T>G (p.Gly1049=)
n.91T>G
c.2877T>G (p.Gly959=)
c.2229T>G (p.Gly743=)
c.2949T>G (p.Gly983=)
17g.50188590A>GCA500844424COL1A1c.3147T>C (p.Gly1049=)
n.91T>C
c.2877T>C (p.Gly959=)
c.2229T>C (p.Gly743=)
c.2949T>C (p.Gly983=)
 dbSNP gnomAD v2
17g.50188590A>TCA500844425COL1A1c.3147T>A (p.Gly1049=)
n.91T>A
c.2877T>A (p.Gly959=)
c.2229T>A (p.Gly743=)
c.2949T>A (p.Gly983=)
17g.50188591C>ACA400201148COL1A1c.3146G>T (p.Gly1049Val)
n.90G>T
c.2876G>T (p.Gly959Val)
c.2228G>T (p.Gly743Val)
c.2948G>T (p.Gly983Val)
17g.50188591C>GCA400201151COL1A1c.3146G>C (p.Gly1049Ala)
n.90G>C
c.2876G>C (p.Gly959Ala)
c.2228G>C (p.Gly743Ala)
c.2948G>C (p.Gly983Ala)
17g.50188591C>TCA400201156COL1A1c.3146G>A (p.Gly1049Asp)
n.90G>A
c.2876G>A (p.Gly959Asp)
c.2228G>A (p.Gly743Asp)
c.2948G>A (p.Gly983Asp)
17g.50188592delCA919856574COL1A1c.3146del (p.Gly1049ValfsTer?)
n.90del
c.2876del (p.Gly959ValfsTer?)
c.2228del (p.Gly743ValfsTer?)
c.2948del (p.Gly983ValfsTer?)
 dbSNP
17g.50188592C>ACA400201163COL1A1c.3145G>T (p.Gly1049Cys)
n.89G>T
c.2875G>T (p.Gly959Cys)
c.2227G>T (p.Gly743Cys)
c.2947G>T (p.Gly983Cys)
17g.50188592C=CA2263915224COL1A1c.3145G= (p.Gly1049=)
n.89G=
c.2875G= (p.Gly959=)
c.2227G= (p.Gly743=)
c.2947G= (p.Gly983=)
17g.50188592C>GCA400201164COL1A1c.3145G>C (p.Gly1049Arg)
n.89G>C
c.2875G>C (p.Gly959Arg)
c.2227G>C (p.Gly743Arg)
c.2947G>C (p.Gly983Arg)
17g.50188592C>TCA291543068COL1A1c.3145G>A (p.Gly1049Ser)
n.89G>A
c.2875G>A (p.Gly959Ser)
c.2227G>A (p.Gly743Ser)
c.2947G>A (p.Gly983Ser)
 dbSNP
17g.50188593A>CCA500844426COL1A1c.3144T>G (p.Pro1048=)
n.88T>G
c.2874T>G (p.Pro958=)
c.2226T>G (p.Pro742=)
c.2946T>G (p.Pro982=)
17g.50188593A>GCA500844427COL1A1c.3144T>C (p.Pro1048=)
n.88T>C
c.2874T>C (p.Pro958=)
c.2226T>C (p.Pro742=)
c.2946T>C (p.Pro982=)
17g.50188593A>TCA500844428COL1A1c.3144T>A (p.Pro1048=)
n.88T>A
c.2874T>A (p.Pro958=)
c.2226T>A (p.Pro742=)
c.2946T>A (p.Pro982=)
17g.50188594G>ACA400201170COL1A1c.3143C>T (p.Pro1048Leu)
n.87C>T
c.2873C>T (p.Pro958Leu)
c.2225C>T (p.Pro742Leu)
c.2945C>T (p.Pro982Leu)
17g.50188594G>CCA400201166COL1A1c.3143C>G (p.Pro1048Arg)
n.87C>G
c.2873C>G (p.Pro958Arg)
c.2225C>G (p.Pro742Arg)
c.2945C>G (p.Pro982Arg)
17g.50188594G>TCA400201173COL1A1c.3143C>A (p.Pro1048His)
n.87C>A
c.2873C>A (p.Pro958His)
c.2225C>A (p.Pro742His)
c.2945C>A (p.Pro982His)
17g.50188595G>ACA400201180COL1A1c.3142C>T (p.Pro1048Ser)
n.86C>T
c.2872C>T (p.Pro958Ser)
c.2224C>T (p.Pro742Ser)
c.2944C>T (p.Pro982Ser)
 gnomAD v4
17g.50188595G>CCA400201190COL1A1c.3142C>G (p.Pro1048Ala)
n.86C>G
c.2872C>G (p.Pro958Ala)
c.2224C>G (p.Pro742Ala)
c.2944C>G (p.Pro982Ala)
17g.50188595G>TCA400201187COL1A1c.3142C>A (p.Pro1048Thr)
n.86C>A
c.2872C>A (p.Pro958Thr)
c.2224C>A (p.Pro742Thr)
c.2944C>A (p.Pro982Thr)
17g.50188596A>CCA500844429COL1A1c.3141T>G (p.Ala1047=)
n.85T>G
c.2871T>G (p.Ala957=)
c.2223T>G (p.Ala741=)
c.2943T>G (p.Ala981=)
17g.50188596A>GCA500844430COL1A1c.3141T>C (p.Ala1047=)
n.85T>C
c.2871T>C (p.Ala957=)
c.2223T>C (p.Ala741=)
c.2943T>C (p.Ala981=)
17g.50188596A>TCA500844431COL1A1c.3141T>A (p.Ala1047=)
n.85T>A
c.2871T>A (p.Ala957=)
c.2223T>A (p.Ala741=)
c.2943T>A (p.Ala981=)
17g.50188596_50188605delinsAGCACCAGGGCA2263915225COL1A1c.3132_3141delinsCCCTGGTGCT (p.Pro1044=)
n.76_85delinsCCCTGGTGCT
c.2862_2871delinsCCCTGGTGCT (p.Pro954=)
c.2214_2223delinsCCCTGGTGCT (p.Pro738=)
c.2934_2943delinsCCCTGGTGCT (p.Pro978=)
17g.50188597G>ACA8644550COL1A1c.3140C>T (p.Ala1047Val)
n.84C>T
c.2870C>T (p.Ala957Val)
c.2222C>T (p.Ala741Val)
c.2942C>T (p.Ala981Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50188597G>CCA400201204COL1A1c.3140C>G (p.Ala1047Gly)
n.84C>G
c.2870C>G (p.Ala957Gly)
c.2222C>G (p.Ala741Gly)
c.2942C>G (p.Ala981Gly)
17g.50188597G=CA2263915226COL1A1c.3140C= (p.Ala1047=)
n.84C=
c.2870C= (p.Ala957=)
c.2222C= (p.Ala741=)
c.2942C= (p.Ala981=)
17g.50188597G>TCA400201206COL1A1c.3140C>A (p.Ala1047Asp)
n.84C>A
c.2870C>A (p.Ala957Asp)
c.2222C>A (p.Ala741Asp)
c.2942C>A (p.Ala981Asp)
17g.50188598_50188606delCA291543069COL1A1c.3132_3140del (p.Pro1045_Ala1047del)
n.76_84del
c.2862_2870del (p.Pro955_Ala957del)
c.2214_2222del (p.Pro739_Ala741del)
c.2934_2942del (p.Pro979_Ala981del)
 dbSNP
17g.50188598C>ACA400201223COL1A1c.3139G>T (p.Ala1047Ser)
n.83G>T
c.2869G>T (p.Ala957Ser)
c.2221G>T (p.Ala741Ser)
c.2941G>T (p.Ala981Ser)
 gnomAD v4
17g.50188598C=CA2263915227COL1A1c.3139G= (p.Ala1047=)
n.83G=
c.2869G= (p.Ala957=)
c.2221G= (p.Ala741=)
c.2941G= (p.Ala981=)
17g.50188598C>GCA8644551COL1A1c.3139G>C (p.Ala1047Pro)
n.83G>C
c.2869G>C (p.Ala957Pro)
c.2221G>C (p.Ala741Pro)
c.2941G>C (p.Ala981Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50188598C>TCA8644552COL1A1c.3139G>A (p.Ala1047Thr)
n.83G>A
c.2869G>A (p.Ala957Thr)
c.2221G>A (p.Ala741Thr)
c.2941G>A (p.Ala981Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50188599A>CCA500844432COL1A1c.3138T>G (p.Gly1046=)
n.82T>G
c.2868T>G (p.Gly956=)
c.2220T>G (p.Gly740=)
c.2940T>G (p.Gly980=)
17g.50188599A>GCA500844434COL1A1c.3138T>C (p.Gly1046=)
n.82T>C
c.2868T>C (p.Gly956=)
c.2220T>C (p.Gly740=)
c.2940T>C (p.Gly980=)
17g.50188599A>TCA500844433COL1A1c.3138T>A (p.Gly1046=)
n.82T>A
c.2868T>A (p.Gly956=)
c.2220T>A (p.Gly740=)
c.2940T>A (p.Gly980=)
17g.50188599_50188608delinsACCAGGGGGTCA2263915228COL1A1c.3129_3138delinsACCCCCTGGT (p.Gly1043=)
n.73_82delinsACCCCCTGGT
c.2859_2868delinsACCCCCTGGT (p.Gly953=)
c.2211_2220delinsACCCCCTGGT (p.Gly737=)
c.2931_2940delinsACCCCCTGGT (p.Gly977=)
17g.50188600C>ACA400201226COL1A1c.3137G>T (p.Gly1046Val)
n.81G>T
c.2867G>T (p.Gly956Val)
c.2219G>T (p.Gly740Val)
c.2939G>T (p.Gly980Val)
17g.50188600C>GCA400201229COL1A1c.3137G>C (p.Gly1046Ala)
n.81G>C
c.2867G>C (p.Gly956Ala)
c.2219G>C (p.Gly740Ala)
c.2939G>C (p.Gly980Ala)
17g.50188600C>TCA400201230COL1A1c.3137G>A (p.Gly1046Asp)
n.81G>A
c.2867G>A (p.Gly956Asp)
c.2219G>A (p.Gly740Asp)
c.2939G>A (p.Gly980Asp)
17g.50188604_50188612delCA291543070COL1A1c.3129_3137del (p.Pro1044_Gly1046del)
n.73_81del
c.2859_2867del (p.Pro954_Gly956del)
c.2211_2219del (p.Pro738_Gly740del)
c.2931_2939del (p.Pro978_Gly980del)
 dbSNP
17g.50188601C>ACA291543071COL1A1c.3136G>T (p.Gly1046Cys)
n.80G>T
c.2866G>T (p.Gly956Cys)
c.2218G>T (p.Gly740Cys)
c.2938G>T (p.Gly980Cys)
 dbSNP
17g.50188601C=CA2263915229COL1A1c.3136G= (p.Gly1046=)
n.80G=
c.2866G= (p.Gly956=)
c.2218G= (p.Gly740=)
c.2938G= (p.Gly980=)
17g.50188601C>GCA400201239COL1A1c.3136G>C (p.Gly1046Arg)
n.80G>C
c.2866G>C (p.Gly956Arg)
c.2218G>C (p.Gly740Arg)
c.2938G>C (p.Gly980Arg)
17g.50188601C>TCA291543072COL1A1c.3136G>A (p.Gly1046Ser)
n.80G>A
c.2866G>A (p.Gly956Ser)
c.2218G>A (p.Gly740Ser)
c.2938G>A (p.Gly980Ser)
 dbSNP
17g.50188601_50188602delinsCACA2263915230COL1A1c.3135_3136delinsTG (p.Pro1045=)
n.79_80delinsTG
c.2865_2866delinsTG (p.Pro955=)
c.2217_2218delinsTG (p.Pro739=)
c.2937_2938delinsTG (p.Pro979=)
17g.50188602delCA915950597COL1A1c.3135del (p.Gly1046ValfsTer?)
n.79del
c.2865del (p.Gly956ValfsTer?)
c.2217del (p.Gly740ValfsTer?)
c.2937del (p.Gly980ValfsTer?)
 ClinVar dbSNP
17g.50188602A>CCA500844435COL1A1c.3135T>G (p.Pro1045=)
n.79T>G
c.2865T>G (p.Pro955=)
c.2217T>G (p.Pro739=)
c.2937T>G (p.Pro979=)
 gnomAD v4
17g.50188602A>GCA500844436COL1A1c.3135T>C (p.Pro1045=)
n.79T>C
c.2865T>C (p.Pro955=)
c.2217T>C (p.Pro739=)
c.2937T>C (p.Pro979=)
17g.50188602A>TCA500844437COL1A1c.3135T>A (p.Pro1045=)
n.79T>A
c.2865T>A (p.Pro955=)
c.2217T>A (p.Pro739=)
c.2937T>A (p.Pro979=)
17g.50188603G>ACA400201251COL1A1c.3134C>T (p.Pro1045Leu)
n.78C>T
c.2864C>T (p.Pro955Leu)
c.2216C>T (p.Pro739Leu)
c.2936C>T (p.Pro979Leu)
17g.50188603G>CCA400201253COL1A1c.3134C>G (p.Pro1045Arg)
n.78C>G
c.2864C>G (p.Pro955Arg)
c.2216C>G (p.Pro739Arg)
c.2936C>G (p.Pro979Arg)
17g.50188603G>TCA400201254COL1A1c.3134C>A (p.Pro1045His)
n.78C>A
c.2864C>A (p.Pro955His)
c.2216C>A (p.Pro739His)
c.2936C>A (p.Pro979His)
17g.50188603_50188606delinsGGGGCA2263915231COL1A1c.3131_3134delinsCCCC (p.Pro1044=)
n.75_78delinsCCCC
c.2861_2864delinsCCCC (p.Pro954=)
c.2213_2216delinsCCCC (p.Pro738=)
c.2933_2936delinsCCCC (p.Pro978=)
17g.50188604G>ACA400201257COL1A1c.3133C>T (p.Pro1045Ser)
n.77C>T
c.2863C>T (p.Pro955Ser)
c.2215C>T (p.Pro739Ser)
c.2935C>T (p.Pro979Ser)
 gnomAD v4
17g.50188604G>CCA400201259COL1A1c.3133C>G (p.Pro1045Ala)
n.77C>G
c.2863C>G (p.Pro955Ala)
c.2215C>G (p.Pro739Ala)
c.2935C>G (p.Pro979Ala)
 dbSNP
17g.50188604G>TCA400201264COL1A1c.3133C>A (p.Pro1045Thr)
n.77C>A
c.2863C>A (p.Pro955Thr)
c.2215C>A (p.Pro739Thr)
c.2935C>A (p.Pro979Thr)
17g.50188604_50188606delinsACA891843990COL1A1c.3131_3133delinsT (p.Pro1044LeufsTer21)
n.75_77delinsT
c.2861_2863delinsT (p.Pro954LeufsTer21)
c.2213_2215delinsT (p.Pro738LeufsTer21)
c.2933_2935delinsT (p.Pro978LeufsTer21)
 ClinVar dbSNP
17g.50188604_50188605insACA2809757638COL1A1c.3132_3133insT (p.Pro1045SerfsTer21)
n.76_77insT
c.2862_2863insT (p.Pro955SerfsTer21)
c.2214_2215insT (p.Pro739SerfsTer21)
c.2934_2935insT (p.Pro979SerfsTer21)
17g.50188604_50188605insAGCACCAGACA2573334529COL1A1c.3132_3133insTCTGGTGCT (p.Pro1044_Pro1045insSerGlyAla)
n.76_77insTCTGGTGCT
c.2862_2863insTCTGGTGCT (p.Pro954_Pro955insSerGlyAla)
c.2214_2215insTCTGGTGCT (p.Pro738_Pro739insSerGlyAla)
c.2934_2935insTCTGGTGCT (p.Pro978_Pro979insSerGlyAla)
17g.50188605G>ACA500844438COL1A1c.3132C>T (p.Pro1044=)
n.76C>T
c.2862C>T (p.Pro954=)
c.2214C>T (p.Pro738=)
c.2934C>T (p.Pro978=)
17g.50188605G>CCA500844439COL1A1c.3132C>G (p.Pro1044=)
n.76C>G
c.2862C>G (p.Pro954=)
c.2214C>G (p.Pro738=)
c.2934C>G (p.Pro978=)
17g.50188605G>TCA500844440COL1A1c.3132C>A (p.Pro1044=)
n.76C>A
c.2862C>A (p.Pro954=)
c.2214C>A (p.Pro738=)
c.2934C>A (p.Pro978=)
17g.50188605_50188606insCGCCACA2809757640COL1A1c.3131_3132insTGGCG (p.Pro1045GlyfsTer?)
n.75_76insTGGCG
c.2861_2862insTGGCG (p.Pro955GlyfsTer?)
c.2213_2214insTGGCG (p.Pro739GlyfsTer?)
c.2933_2934insTGGCG (p.Pro979GlyfsTer?)
17g.50188606G>ACA400201268COL1A1c.3131C>T (p.Pro1044Leu)
n.75C>T
c.2861C>T (p.Pro954Leu)
c.2213C>T (p.Pro738Leu)
c.2933C>T (p.Pro978Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.50188606G>CCA400201269COL1A1c.3131C>G (p.Pro1044Arg)
n.75C>G
c.2861C>G (p.Pro954Arg)
c.2213C>G (p.Pro738Arg)
c.2933C>G (p.Pro978Arg)
17g.50188606G=CA2263915232COL1A1c.3131C= (p.Pro1044=)
n.75C=
c.2861C= (p.Pro954=)
c.2213C= (p.Pro738=)
c.2933C= (p.Pro978=)
17g.50188606G>TCA400201270COL1A1c.3131C>A (p.Pro1044His)
n.75C>A
c.2861C>A (p.Pro954His)
c.2213C>A (p.Pro738His)
c.2933C>A (p.Pro978His)
17g.50188607G>ACA8644553COL1A1c.3130C>T (p.Pro1044Ser)
n.74C>T
c.2860C>T (p.Pro954Ser)
c.2212C>T (p.Pro738Ser)
c.2932C>T (p.Pro978Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50188607G>CCA400201279COL1A1c.3130C>G (p.Pro1044Ala)
n.74C>G
c.2860C>G (p.Pro954Ala)
c.2212C>G (p.Pro738Ala)
c.2932C>G (p.Pro978Ala)
17g.50188607G=CA2263915233COL1A1c.3130C= (p.Pro1044=)
n.74C=
c.2860C= (p.Pro954=)
c.2212C= (p.Pro738=)
c.2932C= (p.Pro978=)
17g.50188607G>TCA400201294COL1A1c.3130C>A (p.Pro1044Thr)
n.74C>A
c.2860C>A (p.Pro954Thr)
c.2212C>A (p.Pro738Thr)
c.2932C>A (p.Pro978Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.50188607_50188608insCCAGGAGGGCCTTGAATACCCTGTAACCCTTGTTCACCTTTAAGCA2809757643COL1A1c.3130_3131insTTAAAGGTGAACAAGGGTTACAGGGTATTCAAGGCCCTCCTGGC (p.Pro1044LeufsTer?)
n.74_75insTTAAAGGTGAACAAGGGTTACAGGGTATTCAAGGCCCTCCTGGC
c.2860_2861insTTAAAGGTGAACAAGGGTTACAGGGTATTCAAGGCCCTCCTGGC (p.Pro954LeufsTer?)
c.2212_2213insTTAAAGGTGAACAAGGGTTACAGGGTATTCAAGGCCCTCCTGGC (p.Pro738LeufsTer?)
c.2932_2933insTTAAAGGTGAACAAGGGTTACAGGGTATTCAAGGCCCTCCTGGC (p.Pro978LeufsTer?)
17g.50188608_50188612dupCA2580094229COL1A1c.3126_3130dup (p.Pro1044LeufsTer?)
n.70_74dup
c.2856_2860dup (p.Pro954LeufsTer?)
c.2208_2212dup (p.Pro738LeufsTer?)
c.2928_2932dup (p.Pro978LeufsTer?)
 ClinVar
17g.50188607_50188608insAGCGCCATCATTCA2809757646COL1A1c.3129_3130insAATGATGGCGCT (p.Gly1043_Pro1044insAsnAspGlyAla)
n.73_74insAATGATGGCGCT
c.2859_2860insAATGATGGCGCT (p.Gly953_Pro954insAsnAspGlyAla)
c.2211_2212insAATGATGGCGCT (p.Gly737_Pro738insAsnAspGlyAla)
c.2931_2932insAATGATGGCGCT (p.Gly977_Pro978insAsnAspGlyAla)
17g.50188608T>ACA500844441COL1A1c.3129A>T (p.Gly1043=)
n.73A>T
c.2859A>T (p.Gly953=)
c.2211A>T (p.Gly737=)
c.2931A>T (p.Gly977=)
17g.50188608T>CCA500844442COL1A1c.3129A>G (p.Gly1043=)
n.73A>G
c.2859A>G (p.Gly953=)
c.2211A>G (p.Gly737=)
c.2931A>G (p.Gly977=)
17g.50188608T>GCA500844443COL1A1c.3129A>C (p.Gly1043=)
n.73A>C
c.2859A>C (p.Gly953=)
c.2211A>C (p.Gly737=)
c.2931A>C (p.Gly977=)
17g.50188609C>ACA400201313COL1A1c.3128G>T (p.Gly1043Val)
n.72G>T
c.2858G>T (p.Gly953Val)
c.2210G>T (p.Gly737Val)
c.2930G>T (p.Gly977Val)
17g.50188609C=CA2263915234COL1A1c.3128G= (p.Gly1043=)
n.72G=
c.2858G= (p.Gly953=)
c.2210G= (p.Gly737=)
c.2930G= (p.Gly977=)
17g.50188609C>GCA400201310COL1A1c.3128G>C (p.Gly1043Ala)
n.72G>C
c.2858G>C (p.Gly953Ala)
c.2210G>C (p.Gly737Ala)
c.2930G>C (p.Gly977Ala)
 ClinVar dbSNP
17g.50188609C>TCA400201303COL1A1c.3128G>A (p.Gly1043Glu)
n.72G>A
c.2858G>A (p.Gly953Glu)
c.2210G>A (p.Gly737Glu)
c.2930G>A (p.Gly977Glu)
17g.50188610C>ACA400201326COL1A1c.3127G>T (p.Gly1043Ter)
n.71G>T
c.2857G>T (p.Gly953Ter)
c.2209G>T (p.Gly737Ter)
c.2929G>T (p.Gly977Ter)
17g.50188610C=CA2263915235COL1A1c.3127G= (p.Gly1043=)
n.71G=
c.2857G= (p.Gly953=)
c.2209G= (p.Gly737=)
c.2929G= (p.Gly977=)
17g.50188610C>GCA400201327COL1A1c.3127G>C (p.Gly1043Arg)
n.71G>C
c.2857G>C (p.Gly953Arg)
c.2209G>C (p.Gly737Arg)
c.2929G>C (p.Gly977Arg)
17g.50188610C>TCA10606376COL1A1c.3127G>A (p.Gly1043Arg)
n.71G>A
c.2857G>A (p.Gly953Arg)
c.2209G>A (p.Gly737Arg)
c.2929G>A (p.Gly977Arg)
 ClinVar dbSNP
17g.50188611A>CCA500844444COL1A1c.3126T>G (p.Ala1042=)
n.70T>G
c.2856T>G (p.Ala952=)
c.2208T>G (p.Ala736=)
c.2928T>G (p.Ala976=)
17g.50188611A>GCA500844445COL1A1c.3126T>C (p.Ala1042=)
n.70T>C
c.2856T>C (p.Ala952=)
c.2208T>C (p.Ala736=)
c.2928T>C (p.Ala976=)
17g.50188611A>TCA500844446COL1A1c.3126T>A (p.Ala1042=)
n.70T>A
c.2856T>A (p.Ala952=)
c.2208T>A (p.Ala736=)
c.2928T>A (p.Ala976=)
17g.50188611_50188612insCGTTCCA2809757648COL1A1c.3125_3126insGAACG (p.Gly1043AsnfsTer?)
n.69_70insGAACG
c.2855_2856insGAACG (p.Gly953AsnfsTer?)
c.2207_2208insGAACG (p.Gly737AsnfsTer?)
c.2927_2928insGAACG (p.Gly977AsnfsTer?)
17g.50188611_50188612insTCAATACCGTTTCGACCAGGTTCCA2809757647COL1A1c.3125_3126insGAACCTGGTCGAAACGGTATTGA (p.Gly1043AsnfsTer?)
n.69_70insGAACCTGGTCGAAACGGTATTGA
c.2855_2856insGAACCTGGTCGAAACGGTATTGA (p.Gly953AsnfsTer?)
c.2207_2208insGAACCTGGTCGAAACGGTATTGA (p.Gly737AsnfsTer?)
c.2927_2928insGAACCTGGTCGAAACGGTATTGA (p.Gly977AsnfsTer?)
17g.50188612G>ACA400201329COL1A1c.3125C>T (p.Ala1042Val)
n.69C>T
c.2855C>T (p.Ala952Val)
c.2207C>T (p.Ala736Val)
c.2927C>T (p.Ala976Val)
17g.50188612G>CCA400201333COL1A1c.3125C>G (p.Ala1042Gly)
n.69C>G
c.2855C>G (p.Ala952Gly)
c.2207C>G (p.Ala736Gly)
c.2927C>G (p.Ala976Gly)
17g.50188612G>TCA400201335COL1A1c.3125C>A (p.Ala1042Asp)
n.69C>A
c.2855C>A (p.Ala952Asp)
c.2207C>A (p.Ala736Asp)
c.2927C>A (p.Ala976Asp)
 gnomAD v4
17g.50188613C>ACA400201352COL1A1c.3124G>T (p.Ala1042Ser)
n.68G>T
c.2854G>T (p.Ala952Ser)
c.2206G>T (p.Ala736Ser)
c.2926G>T (p.Ala976Ser)
17g.50188613C=CA2263915236COL1A1c.3124G= (p.Ala1042=)
n.68G=
c.2854G= (p.Ala952=)
c.2206G= (p.Ala736=)
c.2926G= (p.Ala976=)
17g.50188613C>GCA400201340COL1A1c.3124G>C (p.Ala1042Pro)
n.68G>C
c.2854G>C (p.Ala952Pro)
c.2206G>C (p.Ala736Pro)
c.2926G>C (p.Ala976Pro)
17g.50188613C>TCA8644554COL1A1c.3124G>A (p.Ala1042Thr)
n.68G>A
c.2854G>A (p.Ala952Thr)
c.2206G>A (p.Ala736Thr)
c.2926G>A (p.Ala976Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.50188613_50188614delinsCGCA2263915237COL1A1c.3123_3124delinsCG (p.Pro1041=)
n.67_68delinsCG
c.2853_2854delinsCG (p.Pro951=)
c.2205_2206delinsCG (p.Pro735=)
c.2925_2926delinsCG (p.Pro975=)
17g.50188613_50188614insCTCA2809757652COL1A1c.3123_3124insAG (p.Ala1042ArgfsTer?)
n.67_68insAG
c.2853_2854insAG (p.Ala952ArgfsTer?)
c.2205_2206insAG (p.Ala736ArgfsTer?)
c.2925_2926insAG (p.Ala976ArgfsTer?)
17g.50188613_50188614insCAATCCACA984448881COL1A1c.3123_3124insTGGATTG (p.Ala1042TrpfsTer26)
n.67_68insTGGATTG
c.2853_2854insTGGATTG (p.Ala952TrpfsTer26)
c.2205_2206insTGGATTG (p.Ala736TrpfsTer26)
c.2925_2926insTGGATTG (p.Ala976TrpfsTer26)
 gnomAD v3 gnomAD v4
17g.50188613_50188614insCACGCTCGCCTTGTTCCCCCTTCGTTTTGCTCCACTTGTACA2809757651COL1A1c.3123_3124insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG (p.Ala1042TyrfsTer37)
n.67_68insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG
c.2853_2854insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG (p.Ala952TyrfsTer37)
c.2205_2206insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG (p.Ala736TyrfsTer37)
c.2925_2926insTACAAGTGGAGCAAAACGAAGGGGGAACAAGGCGAGCGTG (p.Ala976TyrfsTer37)
17g.50188614G>ACA245642COL1A1c.3123C>T (p.Pro1041=)
n.67C>T
c.2853C>T (p.Pro951=)
c.2205C>T (p.Pro735=)
c.2925C>T (p.Pro975=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50188614G>CCA500844447COL1A1c.3123C>G (p.Pro1041=)
n.67C>G
c.2853C>G (p.Pro951=)
c.2205C>G (p.Pro735=)
c.2925C>G (p.Pro975=)
 dbSNP
17g.50188614G=CA2263915238COL1A1c.3123C= (p.Pro1041=)
n.67C=
c.2853C= (p.Pro951=)
c.2205C= (p.Pro735=)
c.2925C= (p.Pro975=)
17g.50188614G>TCA500844448COL1A1c.3123C>A (p.Pro1041=)
n.67C>A
c.2853C>A (p.Pro951=)
c.2205C>A (p.Pro735=)
c.2925C>A (p.Pro975=)
17g.50188617delCA10588663COL1A1c.3123del (p.Ala1042LeufsTer?)
n.67del
c.2853del (p.Ala952LeufsTer?)
c.2205del (p.Ala736LeufsTer?)
c.2925del (p.Ala976LeufsTer?)
 ClinVar dbSNP
17g.50188615G>ACA400201359COL1A1c.3122C>T (p.Pro1041Leu)
n.66C>T
c.2852C>T (p.Pro951Leu)
c.2204C>T (p.Pro735Leu)
c.2924C>T (p.Pro975Leu)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.50188615G>CCA400201362COL1A1c.3122C>G (p.Pro1041Arg)
n.66C>G
c.2852C>G (p.Pro951Arg)
c.2204C>G (p.Pro735Arg)
c.2924C>G (p.Pro975Arg)
17g.50188615G=CA2263915239COL1A1c.3122C= (p.Pro1041=)
n.66C=
c.2852C= (p.Pro951=)
c.2204C= (p.Pro735=)
c.2924C= (p.Pro975=)
17g.50188615G>TCA400201365COL1A1c.3122C>A (p.Pro1041His)
n.66C>A
c.2852C>A (p.Pro951His)
c.2204C>A (p.Pro735His)
c.2924C>A (p.Pro975His)
17g.50188615_50188616insAGGACCAGGAGGACCAGGAGGACCAGGACA2809757654COL1A1c.3121_3122insTCCTGGTCCTCCTGGTCCTCCTGGTCCT (p.Pro1041LeufsTer34)
n.65_66insTCCTGGTCCTCCTGGTCCTCCTGGTCCT
c.2851_2852insTCCTGGTCCTCCTGGTCCTCCTGGTCCT (p.Pro951LeufsTer34)
c.2203_2204insTCCTGGTCCTCCTGGTCCTCCTGGTCCT (p.Pro735LeufsTer34)
c.2923_2924insTCCTGGTCCTCCTGGTCCTCCTGGTCCT (p.Pro975LeufsTer34)
17g.50188616G>ACA400201369COL1A1c.3121C>T (p.Pro1041Ser)
n.65C>T
c.2851C>T (p.Pro951Ser)
c.2203C>T (p.Pro735Ser)
c.2923C>T (p.Pro975Ser)
 gnomAD v4
17g.50188616G>CCA400201375COL1A1c.3121C>G (p.Pro1041Ala)
n.65C>G
c.2851C>G (p.Pro951Ala)
c.2203C>G (p.Pro735Ala)
c.2923C>G (p.Pro975Ala)
17g.50188616G>TCA400201372COL1A1c.3121C>A (p.Pro1041Thr)
n.65C>A
c.2851C>A (p.Pro951Thr)
c.2203C>A (p.Pro735Thr)
c.2923C>A (p.Pro975Thr)
 gnomAD v4
17g.50188617G>ACA500844449COL1A1c.3120C>T (p.Gly1040=)
n.64C>T
c.2850C>T (p.Gly950=)
c.2202C>T (p.Gly734=)
c.2922C>T (p.Gly974=)
17g.50188617G>CCA500844450COL1A1c.3120C>G (p.Gly1040=)
n.64C>G
c.2850C>G (p.Gly950=)
c.2202C>G (p.Gly734=)
c.2922C>G (p.Gly974=)
 dbSNP gnomAD v4
17g.50188617G=CA2263915240COL1A1c.3120C= (p.Gly1040=)
n.64C=
c.2850C= (p.Gly950=)
c.2202C= (p.Gly734=)
c.2922C= (p.Gly974=)
17g.50188617G>TCA8644555COL1A1c.3120C>A (p.Gly1040=)
n.64C>A
c.2850C>A (p.Gly950=)
c.2202C>A (p.Gly734=)
c.2922C>A (p.Gly974=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50188618C>ACA400201376COL1A1c.3119G>T (p.Gly1040Val)
n.63G>T
c.2849G>T (p.Gly950Val)
c.2201G>T (p.Gly734Val)
c.2921G>T (p.Gly974Val)
17g.50188618C>GCA400201377COL1A1c.3119G>C (p.Gly1040Ala)
n.63G>C
c.2849G>C (p.Gly950Ala)
c.2201G>C (p.Gly734Ala)
c.2921G>C (p.Gly974Ala)
 ClinVar
17g.50188618C>TCA400201379COL1A1c.3119G>A (p.Gly1040Asp)
n.63G>A
c.2849G>A (p.Gly950Asp)
c.2201G>A (p.Gly734Asp)
c.2921G>A (p.Gly974Asp)
 COSMIC
17g.50188619C>ACA400201382COL1A1c.3118G>T (p.Gly1040Cys)
n.62G>T
c.2848G>T (p.Gly950Cys)
c.2200G>T (p.Gly734Cys)
c.2920G>T (p.Gly974Cys)
17g.50188619C=CA2263915241COL1A1c.3118G= (p.Gly1040=)
n.62G=
c.2848G= (p.Gly950=)
c.2200G= (p.Gly734=)
c.2920G= (p.Gly974=)
17g.50188619C>GCA400201385COL1A1c.3118G>C (p.Gly1040Arg)
n.62G>C
c.2848G>C (p.Gly950Arg)
c.2200G>C (p.Gly734Arg)
c.2920G>C (p.Gly974Arg)
17g.50188619C>TCA257899COL1A1c.3118G>A (p.Gly1040Ser)
n.62G>A
c.2848G>A (p.Gly950Ser)
c.2200G>A (p.Gly734Ser)
c.2920G>A (p.Gly974Ser)
 ClinVar dbSNP
17g.50188620G>ACA500844451COL1A1c.3117C>T (p.Thr1039=)
n.61C>T
c.2847C>T (p.Thr949=)
c.2199C>T (p.Thr733=)
c.2919C>T (p.Thr973=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50188620G>CCA500844453COL1A1c.3117C>G (p.Thr1039=)
n.61C>G
c.2847C>G (p.Thr949=)
c.2199C>G (p.Thr733=)
c.2919C>G (p.Thr973=)
17g.50188620G=CA2263915242COL1A1c.3117C= (p.Thr1039=)
n.61C=
c.2847C= (p.Thr949=)
c.2199C= (p.Thr733=)
c.2919C= (p.Thr973=)
17g.50188620G>TCA500844452COL1A1c.3117C>A (p.Thr1039=)
n.61C>A
c.2847C>A (p.Thr949=)
c.2199C>A (p.Thr733=)
c.2919C>A (p.Thr973=)
 dbSNP
17g.50188621G>ACA400201391COL1A1c.3116C>T (p.Thr1039Ile)
n.60C>T
c.2846C>T (p.Thr949Ile)
c.2198C>T (p.Thr733Ile)
c.2918C>T (p.Thr973Ile)
17g.50188621G>CCA400201396COL1A1c.3116C>G (p.Thr1039Ser)
n.60C>G
c.2846C>G (p.Thr949Ser)
c.2198C>G (p.Thr733Ser)
c.2918C>G (p.Thr973Ser)
17g.50188621G>TCA400201401COL1A1c.3116C>A (p.Thr1039Asn)
n.60C>A
c.2846C>A (p.Thr949Asn)
c.2198C>A (p.Thr733Asn)
c.2918C>A (p.Thr973Asn)
17g.50188622T>ACA400201404COL1A1c.3115A>T (p.Thr1039Ser)
n.59A>T
c.2845A>T (p.Thr949Ser)
c.2197A>T (p.Thr733Ser)
c.2917A>T (p.Thr973Ser)
17g.50188622T>CCA400201403COL1A1c.3115A>G (p.Thr1039Ala)
n.59A>G
c.2845A>G (p.Thr949Ala)
c.2197A>G (p.Thr733Ala)
c.2917A>G (p.Thr973Ala)
17g.50188622T>GCA400201402COL1A1c.3115A>C (p.Thr1039Pro)
n.59A>C
c.2845A>C (p.Thr949Pro)
c.2197A>C (p.Thr733Pro)
c.2917A>C (p.Thr973Pro)
17g.50188622T=CA2263915243COL1A1c.3115A= (p.Thr1039=)
n.59A=
c.2845A= (p.Thr949=)
c.2197A= (p.Thr733=)
c.2917A= (p.Thr973=)
17g.50188623delCA2695226472COL1A1c.3114del (p.Thr1039ProfsTer?)
n.58del
c.2844del (p.Thr949ProfsTer?)
c.2196del (p.Thr733ProfsTer?)
c.2916del (p.Thr973ProfsTer?)
17g.50188623C>ACA400201408COL1A1c.3114G>T (p.Glu1038Asp)
n.58G>T
c.2844G>T (p.Glu948Asp)
c.2196G>T (p.Glu732Asp)
c.2916G>T (p.Glu972Asp)
17g.50188623C>GCA400201415COL1A1c.3114G>C (p.Glu1038Asp)
n.58G>C
c.2844G>C (p.Glu948Asp)
c.2196G>C (p.Glu732Asp)
c.2916G>C (p.Glu972Asp)
 gnomAD v4
17g.50188623C>TCA500844456COL1A1c.3114G>A (p.Glu1038=)
n.58G>A
c.2844G>A (p.Glu948=)
c.2196G>A (p.Glu732=)
c.2916G>A (p.Glu972=)
17g.50188623dupCA915950598COL1A1c.3114dup (p.Thr1039AspfsTer27)
n.58dup
c.2844dup (p.Thr949AspfsTer27)
c.2196dup (p.Thr733AspfsTer27)
c.2916dup (p.Thr973AspfsTer27)
 ClinVar dbSNP
17g.50188624T>ACA400201422COL1A1c.3113A>T (p.Glu1038Val)
n.57A>T
c.2843A>T (p.Glu948Val)
c.2195A>T (p.Glu732Val)
c.2915A>T (p.Glu972Val)
17g.50188624T>CCA400201427COL1A1c.3113A>G (p.Glu1038Gly)
n.57A>G
c.2843A>G (p.Glu948Gly)
c.2195A>G (p.Glu732Gly)
c.2915A>G (p.Glu972Gly)
17g.50188624T>GCA400201430COL1A1c.3113A>C (p.Glu1038Ala)
n.57A>C
c.2843A>C (p.Glu948Ala)
c.2195A>C (p.Glu732Ala)
c.2915A>C (p.Glu972Ala)
17g.50188625delCA2695226473COL1A1c.3112del (p.Glu1038ArgfsTer?)
n.56del
c.2842del (p.Glu948ArgfsTer?)
c.2194del (p.Glu732ArgfsTer?)
c.2914del (p.Glu972ArgfsTer?)
17g.50188625C>ACA400201438COL1A1c.3112G>T (p.Glu1038Ter)
n.56G>T
c.2842G>T (p.Glu948Ter)
c.2194G>T (p.Glu732Ter)
c.2914G>T (p.Glu972Ter)
17g.50188625C>GCA400201440COL1A1c.3112G>C (p.Glu1038Gln)
n.56G>C
c.2842G>C (p.Glu948Gln)
c.2194G>C (p.Glu732Gln)
c.2914G>C (p.Glu972Gln)
17g.50188625C>TCA400201449COL1A1c.3112G>A (p.Glu1038Lys)
n.56G>A
c.2842G>A (p.Glu948Lys)
c.2194G>A (p.Glu732Lys)
c.2914G>A (p.Glu972Lys)
 gnomAD v4 COSMIC
17g.50188626A>CCA500844461COL1A1c.3111T>G (p.Gly1037=)
n.55T>G
c.2841T>G (p.Gly947=)
c.2193T>G (p.Gly731=)
c.2913T>G (p.Gly971=)
17g.50188626A>GCA500844462COL1A1c.3111T>C (p.Gly1037=)
n.55T>C
c.2841T>C (p.Gly947=)
c.2193T>C (p.Gly731=)
c.2913T>C (p.Gly971=)
17g.50188626A>TCA500844463COL1A1c.3111T>A (p.Gly1037=)
n.55T>A
c.2841T>A (p.Gly947=)
c.2193T>A (p.Gly731=)
c.2913T>A (p.Gly971=)
17g.50188626_50188635dupCA2499224715COL1A1c.3102_3111dup (p.Glu1038Ter)
n.46_55dup
c.2832_2841dup (p.Glu948Ter)
c.2184_2193dup (p.Glu732Ter)
c.2904_2913dup (p.Glu972Ter)
 ClinVar dbSNP
17g.50188627C>ACA400201452COL1A1c.3110G>T (p.Gly1037Val)
n.54G>T
c.2840G>T (p.Gly947Val)
c.2192G>T (p.Gly731Val)
c.2912G>T (p.Gly971Val)
17g.50188627C>GCA400201457COL1A1c.3110G>C (p.Gly1037Ala)
n.54G>C
c.2840G>C (p.Gly947Ala)
c.2192G>C (p.Gly731Ala)
c.2912G>C (p.Gly971Ala)
17g.50188627C>TCA400201455COL1A1c.3110G>A (p.Gly1037Asp)
n.54G>A
c.2840G>A (p.Gly947Asp)
c.2192G>A (p.Gly731Asp)
c.2912G>A (p.Gly971Asp)
17g.50188628C>ACA400201462COL1A1c.3109G>T (p.Gly1037Cys)
n.53G>T
c.2839G>T (p.Gly947Cys)
c.2191G>T (p.Gly731Cys)
c.2911G>T (p.Gly971Cys)
17g.50188628C>GCA400201466COL1A1c.3109G>C (p.Gly1037Arg)
n.53G>C
c.2839G>C (p.Gly947Arg)
c.2191G>C (p.Gly731Arg)
c.2911G>C (p.Gly971Arg)
17g.50188628C>TCA400201471COL1A1c.3109G>A (p.Gly1037Ser)
n.53G>A
c.2839G>A (p.Gly947Ser)
c.2191G>A (p.Gly731Ser)
c.2911G>A (p.Gly971Ser)
17g.50188629A=CA2263915244COL1A1c.3108T= (p.Arg1036=)
n.52T=
c.2838T= (p.Arg946=)
c.2190T= (p.Arg730=)
c.2910T= (p.Arg970=)
17g.50188629A>CCA500844467COL1A1c.3108T>G (p.Arg1036=)
n.52T>G
c.2838T>G (p.Arg946=)
c.2190T>G (p.Arg730=)
c.2910T>G (p.Arg970=)
17g.50188629A>GCA8644556COL1A1c.3108T>C (p.Arg1036=)
n.52T>C
c.2838T>C (p.Arg946=)
c.2190T>C (p.Arg730=)
c.2910T>C (p.Arg970=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.50188629A>TCA500844469COL1A1c.3108T>A (p.Arg1036=)
n.52T>A
c.2838T>A (p.Arg946=)
c.2190T>A (p.Arg730=)
c.2910T>A (p.Arg970=)
17g.50188630C>ACA400201489COL1A1c.3107G>T (p.Arg1036Leu)
n.51G>T
c.2837G>T (p.Arg946Leu)
c.2189G>T (p.Arg730Leu)
c.2909G>T (p.Arg970Leu)
17g.50188630C=CA2263915245COL1A1c.3107G= (p.Arg1036=)
n.51G=
c.2837G= (p.Arg946=)
c.2189G= (p.Arg730=)
c.2909G= (p.Arg970=)
17g.50188630C>GCA400201494COL1A1c.3107G>C (p.Arg1036Pro)
n.51G>C
c.2837G>C (p.Arg946Pro)
c.2189G>C (p.Arg730Pro)
c.2909G>C (p.Arg970Pro)
17g.50188630C>TCA8644557COL1A1c.3107G>A (p.Arg1036His)
n.51G>A
c.2837G>A (p.Arg946His)
c.2189G>A (p.Arg730His)
c.2909G>A (p.Arg970His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.50188631G>ACA8644558COL1A1c.3106C>T (p.Arg1036Cys)
n.50C>T
c.2836C>T (p.Arg946Cys)
c.2188C>T (p.Arg730Cys)
c.2908C>T (p.Arg970Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50188631G>CCA400201498COL1A1c.3106C>G (p.Arg1036Gly)
n.50C>G
c.2836C>G (p.Arg946Gly)
c.2188C>G (p.Arg730Gly)
c.2908C>G (p.Arg970Gly)
 gnomAD v4
17g.50188631G=CA2263915246COL1A1c.3106C= (p.Arg1036=)
n.50C=
c.2836C= (p.Arg946=)
c.2188C= (p.Arg730=)
c.2908C= (p.Arg970=)
17g.50188631G>TCA400201500COL1A1c.3106C>A (p.Arg1036Ser)
n.50C>A
c.2836C>A (p.Arg946Ser)
c.2188C>A (p.Arg730Ser)
c.2908C>A (p.Arg970Ser)
17g.50188632G>ACA500844471COL1A1c.3105C>T (p.Asp1035=)
n.49C>T
c.2835C>T (p.Asp945=)
c.2187C>T (p.Asp729=)
c.2907C>T (p.Asp969=)
 gnomAD v4
17g.50188632G>CCA400201501COL1A1c.3105C>G (p.Asp1035Glu)
n.49C>G
c.2835C>G (p.Asp945Glu)
c.2187C>G (p.Asp729Glu)
c.2907C>G (p.Asp969Glu)
17g.50188632G=CA2263915247COL1A1c.3105C= (p.Asp1035=)
n.49C=
c.2835C= (p.Asp945=)
c.2187C= (p.Asp729=)
c.2907C= (p.Asp969=)
17g.50188632G>TCA400201502COL1A1c.3105C>A (p.Asp1035Glu)
n.49C>A
c.2835C>A (p.Asp945Glu)
c.2187C>A (p.Asp729Glu)
c.2907C>A (p.Asp969Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.50188633T>ACA400201504COL1A1c.3104A>T (p.Asp1035Val)
n.48A>T
c.2834A>T (p.Asp945Val)
c.2186A>T (p.Asp729Val)
c.2906A>T (p.Asp969Val)
17g.50188633T>CCA400201505COL1A1c.3104A>G (p.Asp1035Gly)
n.48A>G
c.2834A>G (p.Asp945Gly)
c.2186A>G (p.Asp729Gly)
c.2906A>G (p.Asp969Gly)
17g.50188633T>GCA400201506COL1A1c.3104A>C (p.Asp1035Ala)
n.48A>C
c.2834A>C (p.Asp945Ala)
c.2186A>C (p.Asp729Ala)
c.2906A>C (p.Asp969Ala)
 dbSNP
17g.50188633T=CA2263915248COL1A1c.3104A= (p.Asp1035=)
n.48A=
c.2834A= (p.Asp945=)
c.2186A= (p.Asp729=)
c.2906A= (p.Asp969=)
17g.50188634C>ACA400201508COL1A1c.3103G>T (p.Asp1035Tyr)
n.47G>T
c.2833G>T (p.Asp945Tyr)
c.2185G>T (p.Asp729Tyr)
c.2905G>T (p.Asp969Tyr)
 gnomAD v4
17g.50188634C>GCA400201509COL1A1c.3103G>C (p.Asp1035His)
n.47G>C
c.2833G>C (p.Asp945His)
c.2185G>C (p.Asp729His)
c.2905G>C (p.Asp969His)
17g.50188634C>TCA400201513COL1A1c.3103G>A (p.Asp1035Asn)
n.47G>A
c.2833G>A (p.Asp945Asn)
c.2185G>A (p.Asp729Asn)
c.2905G>A (p.Asp969Asn)
17g.50188635A=CA2263915249COL1A1c.3102T= (p.Gly1034=)
n.46T=
c.2832T= (p.Gly944=)
c.2184T= (p.Gly728=)
c.2904T= (p.Gly968=)
17g.50188635A>CCA500844475COL1A1c.3102T>G (p.Gly1034=)
n.46T>G
c.2832T>G (p.Gly944=)
c.2184T>G (p.Gly728=)
c.2904T>G (p.Gly968=)
17g.50188635A>GCA8644559COL1A1c.3102T>C (p.Gly1034=)
n.46T>C
c.2832T>C (p.Gly944=)
c.2184T>C (p.Gly728=)
c.2904T>C (p.Gly968=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50188635A>TCA500844476COL1A1c.3102T>A (p.Gly1034=)
n.46T>A
c.2832T>A (p.Gly944=)
c.2184T>A (p.Gly728=)
c.2904T>A (p.Gly968=)
 gnomAD v4
17g.50188636C>ACA400202868COL1A1c.3101G>T (p.Gly1034Val)
n.45G>T
c.2831G>T (p.Gly944Val)
c.2183G>T (p.Gly728Val)
c.2903G>T (p.Gly968Val)
17g.50188636C=CA2263915250COL1A1c.3101G= (p.Gly1034=)
n.45G=
c.2831G= (p.Gly944=)
c.2183G= (p.Gly728=)
c.2903G= (p.Gly968=)
17g.50188636C>GCA400202879COL1A1c.3101G>C (p.Gly1034Ala)
n.45G>C
c.2831G>C (p.Gly944Ala)
c.2183G>C (p.Gly728Ala)
c.2903G>C (p.Gly968Ala)
17g.50188636C>TCA8644560COL1A1c.3101G>A (p.Gly1034Asp)
n.45G>A
c.2831G>A (p.Gly944Asp)
c.2183G>A (p.Gly728Asp)
c.2903G>A (p.Gly968Asp)
 dbSNP ExAC gnomAD v2
17g.50188637C>ACA400202881COL1A1c.3100G>T (p.Gly1034Cys)
n.44G>T
c.2830G>T (p.Gly944Cys)
c.2182G>T (p.Gly728Cys)
c.2902G>T (p.Gly968Cys)
17g.50188637C>GCA400202888COL1A1c.3100G>C (p.Gly1034Arg)
n.44G>C
c.2830G>C (p.Gly944Arg)
c.2182G>C (p.Gly728Arg)
c.2902G>C (p.Gly968Arg)
17g.50188637C>TCA400202889COL1A1c.3100G>A (p.Gly1034Ser)
n.44G>A
c.2830G>A (p.Gly944Ser)
c.2182G>A (p.Gly728Ser)
c.2902G>A (p.Gly968Ser)
17g.50188640_50188743delCA500844593COL1A1c.3099+2_3100del
n.43+2_44del
c.2829+2_2830del
c.2181+2_2182del
c.2901+2_2902del
17g.50188638C>ACA400202890COL1A1c.3100-1G>T (n.3100-1G>T)
n.44-1G>T
c.2830-1G>T (n.2830-1G>T)
c.2182-1G>T (n.2182-1G>T)
c.2902-1G>T (n.2902-1G>T)
17g.50188638C=CA2263915251COL1A1c.3100-1G= (n.3100-1G=)
n.44-1G=
c.2830-1G= (n.2830-1G=)
c.2182-1G= (n.2182-1G=)
c.2902-1G= (n.2902-1G=)
17g.50188638C>GCA400202891COL1A1c.3100-1G>C (n.3100-1G>C)
n.44-1G>C
c.2830-1G>C (n.2830-1G>C)
c.2182-1G>C (n.2182-1G>C)
c.2902-1G>C (n.2902-1G>C)
17g.50188638C>TCA400202892COL1A1c.3100-1G>A (n.3100-1G>A)
n.44-1G>A
c.2830-1G>A (n.2830-1G>A)
c.2182-1G>A (n.2182-1G>A)
c.2902-1G>A (n.2902-1G>A)
 ClinVar dbSNP
17g.50188639T>ACA400202894COL1A1c.3100-2A>T (n.3100-2A>T)
n.44-2A>T
c.2830-2A>T (n.2830-2A>T)
c.2182-2A>T (n.2182-2A>T)
c.2902-2A>T (n.2902-2A>T)
17g.50188639T>CCA291543074COL1A1c.3100-2A>G (n.3100-2A>G)
n.44-2A>G
c.2830-2A>G (n.2830-2A>G)
c.2182-2A>G (n.2182-2A>G)
c.2902-2A>G (n.2902-2A>G)
 ClinVar dbSNP
17g.50188639T>GCA400202898COL1A1c.3100-2A>C (n.3100-2A>C)
n.44-2A>C
c.2830-2A>C (n.2830-2A>C)
c.2182-2A>C (n.2182-2A>C)
c.2902-2A>C (n.2902-2A>C)
17g.50188639T=CA2263915252COL1A1c.3100-2A= (n.3100-2A=)
n.44-2A=
c.2830-2A= (n.2830-2A=)
c.2182-2A= (n.2182-2A=)
c.2902-2A= (n.2902-2A=)
17g.50188639dupCA291543073COL1A1c.3100-2dup (n.3100-2dup)
n.44-2dup
c.2830-2dup (n.2830-2dup)
c.2182-2dup (n.2182-2dup)
c.2902-2dup (n.2902-2dup)
 dbSNP
17g.50188640G>TCA2638709347COL1A1c.3100-3C>A (n.3100-3C>A)
n.44-3C>A
c.2830-3C>A (n.2830-3C>A)
c.2182-3C>A (n.2182-3C>A)
c.2902-3C>A (n.2902-3C>A)
 gnomAD v4
17g.50188642_50188646dupCA772783330COL1A1c.3100-7_3100-3dup (n.3100-7_3100-3dup)
n.44-7_44-3dup
c.2830-7_2830-3dup (n.2830-7_2830-3dup)
c.2182-7_2182-3dup (n.2182-7_2182-3dup)
c.2902-7_2902-3dup (n.2902-7_2902-3dup)
 dbSNP gnomAD v4

Number of alleles fetched